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Biochem Flashcards

1
Q

Lactic acidosis

A

Galactosemias

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2
Q

Avoid legumes

A

GALT/Gal-1-P Deficiency

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3
Q

Only symptom is cataracts

A

GALK Deficiency

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4
Q

Dietary lactose and galactose restriction

A

GALE Deficiency

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5
Q

Galactosemias

A

GALT/Gal-1-P Deficiency
GALK deficiency
GALE deficiency

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6
Q 
Liver dysfunction
Renal dysfunction
Hypoglycemia
Cataracts
Dairy intolerance
Lactic acidosis
Hyperuricemia
A

General features of Galactosemias

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7
Q

Glycogen storage diseases

A

Von-Gierke Disease
Pompe Disease
McArdle Disease

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8
Q

Cornstarch between meals

Nighttime glucose infusions

A

Von-Gierke disease (GSD type 1)

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9
Q

Cardiomegaly, hypotonia, cardiomyopathy, respiratory distress, recurrent respiratory infections, enlarged tongue

A

Pompe - infantile type

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10
Q

Sucrose supplementation before exercise
Vitamin B6 supplementation
High protein/fat diet

A

McArdle Disease (GSD V)

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11
Q

Myoglobinuria, myopathy, skeletal muscle weakness, exercise intolerance, rhabdomyolysis

A

McArdle disease (GSD V)

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12
Q

Hypoglycemia, hyperlipidemia, Hyperuricemia, lactic acidosis, liver dysfunction/hepatomegaly, DD, seizures, GI problems, growth retardation, renal problems/kidney stones

A

Von gierke (GSD 1)

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13
Q

X-Linked LSDs

A

Fabry
Danon disease
Hunter syndrome (MPS II)

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14
Q 
Neurodegeneration
Vision problems
Seizures
Personality and behavioral changes
Echolalia
Clumsiness
Poor growth
Poor circulation to lower extremities
Decreased body mass
Breath holding spells
Bruxism
Neuro degeneration leading to death between 6 yrs and teenage years
A

Batten disease (LSD)

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15
Q 
Hypertrophic cardiomyopathy
Wolff Parkinson White conduction abnormality
Skeletal muscle myopathy
Visual/retinal pigment disturbances
ID (usually absent in females)
A

Danon disease (LSD - X-linked dominant) gene - LAMP2

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16
Q

Pain and tingling in limbs, pain crises, angiokeratomas, anhidrosis/hypohidrosis, corneal whorl, left ventricular hypertophy, GI problems, renal insufficiency (protein urea), depression secondary to chronic pain

A

Fabry disease (X-linked)

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17
Q

Corneal whorls

A

Fabry

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18
Q

Erlenmeyer flask deformity

A

Gaucher disease

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19
Q

Splenomegaly, thrombocytopenia, pulmonary hypertension, bone crises, Erlenmeyer flask deformity, no cns involvement

A

Gaucher type 1

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20
Q

Bulbar and pyramidal signs, ID, convulsions, hypertonic, apnea, no bone disease/crises, hepatosplenomegaly, thrombocytopenia, pulmonary hypertension, dermatological abnormalities

A

Gaucher type 2 (most severe)

Lifespan: 2-4 years

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21
Q

Progressive myoclonus epilepsy, oculomotor apraxia, hepatosplenomegaly, thrombocytopenia,
Pulmonary hypertension, bone crises, Erlenmeyer flask deformities, chronic neuropathies

A

Gaucher type 3

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22
Q

What type of gaucher is ERT not effective for?

A

Type 2

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23
Q

Irritability, fevers, stiffening of limbs, seizures, feeding difficulties/vomiting, mental and motor delay, muscle weakness, spasticity, deafness, optic atrophy and blindness, paralysis

A

Krabbe - death by age 2 :(

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24
Q

DD, ID, regression, hepatosplenomegaly, skeletal anomalies, short stature, cardiac anomalies, corneal clouding, hearing loss

A

Hurler-scheie (MPS I)

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25
Q

DD, ID, regression, skeletal anomalies, short stature, cardiac anomalies, clear corneas, hearing loss

A

Hunter syndrome (MPS II - X-linked)

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26
Q

Milder skeletal phenotype, coarse facies, progressive sleep and behavior problems, no cardiac anomalies, clear corneas

A

San-Filippo Syndrome (MPS III)

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27
Q

Severe skeletal phenotype (short trunked dwarfism), normal intellect, chest deformities, cardiac anomalies, bone malformation, macrocephaly

A

Mosquito syndrome (MPS IV)

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28
Q

Skeletal anomalies, short stature, cardiac anomalies, corneal clouding, normal intellect

A

Maroteaux-Lamy (MPS VI)

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29
Q

DD, regression, cardiac anomalies, hepatosplenomegaly, recurrent ENT problems

A

Sly syndrome (MPS VII)

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30
Q

Mildest type of Niemann Pick

A

Type B

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31
Q 
Hepatosplenomegaly
Failure to thrive 
Progressive nervous system deterioration 
Profound brain damage
Development stops at 1 year and regresses
Pulmonary insufficiency
Recurrent lung infections
Cherry red spot 
Death by 3 years
A

Niemann pick type A

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32
Q

Form of Niemann Pick where cognitive function may be spared

A

Type B

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33
Q 
Hepatosplenomegaly 
Dystonia
Dysphasia
Progressive neurological deterioration 
Cerebellum ataxia
Dysarthria
Vertical supranuclear gaze palsy
Psychosis
Progressive HL
A

Niemann pick type C

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34
Q

Hyperammonemia

A

Urea cycle disorders

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35
Q

Severe acidosis

A

Organic acidemias

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36
Q

Lethargy and seizures

A

MSUD

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37
Q

Jaundice, hypoglycemia, liver failure

A

Galactosemias

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38
Q

Hypoglycemia, weakness, cardiac

A

FAOD

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39
Q

Hypoglycemia, circulatory collapse

A

CAH

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40
Q

Transient Hyperammonemia is associated with _

A

Asphyxia (low APGARs)

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41
Q

Rapid and shallow breathing

A

Hyperammonemia

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42
Q

Deep breathing

A

Acidosis

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43
Q

Propionic, methylmalonic, isovaleric

A

Organic acidemias

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44
Q

Primary lactic acidosis

A

Mito (ETC) defects

Pyruvate dehydrogenase deficiency

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45
Q

Hyperpnea - rapid breathing

A

Urea cycle defects

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46
Q

Kussmaul - deep breathing

A

Organic acidemias

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47
Q

Respiratory depression

A

MSUD

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48
Q

Hiccuping and apnea

A

Nonketotic hyperglycinemia

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49
Q

Hypoglycemia in newborns differential

A 
Normal
CAH
FAOD
Galactosemias
Propionic acidemia
Gluconeogenic defects
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50
Q

Hepatomegaly in newborn

A

Galactosemias
Tyrosinemia (usually later)
FAOD
LSD (usually later)

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51
Q

Seizures in newborn

A 
Nonketotic hyperglycinemia 
Urea cycle defects (Hyperammonemia)
Organic acidemias (Hyperammonemia, hypoglycemia)
Gluconeogenic defects (hypoglycemia)
LSDs (usually later)
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52
Q

Amino acids disorders

A

Urea cycle, organic acidemias, MSUD, nonketotic hyperglycinemia

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53
Q

Carbohydrate disorders

A

Galactosemias, gluconeogenic defects, electron transport chain defects

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54
Q

Female heterozygote may be protein intolerant

A

OTC

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55
Q

Vomiting, hyperpnea, lethargy

A

Organic acidemias

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56
Q

Vitamin B12 enzyme

A

Methylmalonic acidemia

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57
Q

Elevated C3 acylcarnitine

A

Methylmalonic acidemia

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58
Q

Sweaty feet

A

Isovaleric acidemia

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59
Q

Riboflavin (vitamin B2)

A

Isovaleric acidemia

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60
Q

Elevated C5 acylcarnitine

A

Isovaleric acidemia

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61
Q

Branched chain ketoacid dehydrogenase

A

MSUD

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62
Q

Elevated leucine in NBS

A

MSUD

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63
Q

Lethargy, hypotonia, respiratory depression, seizures.

Progresses to vomiting, ketoacidosis

A

MSUD

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64
Q

Liver failure, E. Coli sepsis

A

Galactosemia

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65
Q

Jaundice, hepatomegaly, vomiting

A

Galactosemia

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66
Q

Improve on IV fluids and then get worse when fed

A

Galactosemia

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67
Q

Fasting hypoglycemia, liver disease, myopathy

A

FAOD

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68
Q

C8 acylcarnitine

A

MCAD

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69
Q

C14:1 acylcarnitine

A

VLCAD

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70
Q

Long chain defects can cause

A

Progressive liver/muscle disease

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71
Q

Prenatal virilization in females

A

CAH and antley bixler

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72
Q

Salt wasting

A

21-OH deficiency

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73
Q

Defects in what also cause elevated phenylalanine?

A

tetrahydrobiopterin (BH4 needed in other reactions and does not respond to PKU diet alone)

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74
Q

Teratogen that causes microcephaly and heart malformations

A

Maternal PKU

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75
Q

What does Galactose-I-phosphate do?

A

Converts galactose (in milk) to glucose (blood sugar)

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76
Q

Feeding intolerant, vomiting, liver failure (jaundice liver enlargement, blood clotting abnormalities), predisposition to infections

A

Galactosemia

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77
Q

Resolves when milk is removed from the diet

A

Galactosemia

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78
Q

Duarte variant

A

N314D - common variant sometimes picked up by galactosemia screening (low activity, 5% population frequency, does not require treatment)

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79
Q

False positives in summer

A

NBS that tests for enzyme levels of galactosemias (GalPUT, GALT)

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80
Q

Hypoglycemia, coma, “SIDS”

A

MCAD

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81
Q

A985G

A

Common MCAD mutation (>90% of Caucasian MCAD mutations)

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82
Q

Hexanoylglycine

A

MCAD - Acylglycine analysis

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83
Q

Most frequent condition in NBS

A

Hypothyroidism (1/3000)

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84
Q

Lethargy, sleepiness, poor feeding and growth, hoarse cry, DD

A

Hypothyroidism (treated with oral thyroid hormone replacement)

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85
Q

Start T4 replacement as soon as possible

A

Hypothyroidism NBS

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86
Q

Poor feeding, lethargy, virilization of females, salt wasting

A

Congenital Adrenal Hyperplasia (CAH)

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87
Q

Cortisol and Florinef (mineralocorticoid) + NaCl = treatment

A

CAH

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88
Q

Methionine increased on PAA

A

homocystinuria

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89
Q

Citrulline increased on PAA

A

Urea cycle disorders

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90
Q

Leucine increased on PAA

A

MSUD

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91
Q

Fasting or feeding specimens for PAA?

A

Fasting preferred

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92
Q

C3 on Acylcarnitine

A

Propionylcarnitine (propionic or methylmalonic acidemia)

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93
Q

B12 defects

A

Methylmalonic aciduria and homocystinuria

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94
Q

Skeletal dysplasia, joint stiffness, organomegaly, intellectual deterioration, excretion of “glycosaminoglycans” in urine

A

General features of MPS

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95
Q

Glycosaminoglycans

A

Mucopolysaccharides (other name)

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96
Q

Acute acidosis in neonatal period

A

Methylmalonyl-CoA mutase deficiency or Propionic acidemia

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97
Q

Defect in methionine metabolism

A

Homocystinuria

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98
Q

Folate defect

A

Homocystinuria - associated with thrombosis and neural tube defects

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99
Q

Multiple carboxylase deficiency

A

Biotin defects

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100
Q

_ granules in liver cells

A

Glycogen

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101
Q

_ cells in bone marrow

A

“Gaucher”

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102
Q

Categories of Lysosomal Storage Diseases

A

Glycolipidoses, Mucopolysaccharidoses, Oligosaccharidoses

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103
Q

Glycolipidoses

A

Gangliosides, cerebrosides, etc.

Gaucher, Niemann-Pick, Tay-Sachs, Krabbe, Fabry, etc.

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104
Q

MPS

A

Glycosaminoglycans

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105
Q

Oligosaccharidoses

A

Glycoproteins

Similar to MPS

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106
Q

Sphingolipids

A

Think LSDs

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107
Q

Glycogen accumulation in tissues

A

Liver, Heart, Skeletal muscle (Glycogen Storage Diseases)

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108
Q

Fasting hypoglycemia

A

Glycogen Storage Diseases

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109
Q

Muscle weakness, pain on exercise

A

Glycogen Storage Diseases

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110
Q

Enlarged spleen, anemia, low platelet count (thrombocytopenia), Interstitial lung disease, Bony involvement (pathologic fractures)

A

Gaucher Disease - “Erlenmeyer Flask” on X-ray

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111
Q

Low platelet count

A

thrombocytopenia

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112
Q

N370S

A

Common AJ mutation in Gaucher type I

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113
Q

L444P

A

Common Swedish mutation in Type 3 Gaucher

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114
Q

Neuronopathic type of Gaucher

A

Type 3, slowly progressive neurologic disease

Distubance of upward gaze

Common mutation in Swedish population

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115
Q

Sphingomyelinase deficiency

A

Causes Types A and B of Niemann Pick

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116
Q

Cholesterol trafficking defect

A

Niemann-Pick type C

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117
Q

Hepatosplenomegaly, hypotonia, neurologic deterioration, poor growth

A

Niemann-Pick Disease

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118
Q

Palsy of upward gaze

A

Type C Niemann-Pick

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119
Q

Dysostosis multiplex on X-ray

A

MPS (and other LSD’s)

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120
Q

Hepatosplenomegaly, corneal clouding, bony involvement - dysostosis multiplex, +/- progressive neurologic impairment, obstructive/restrictive pulmonary disease, cardiac valve dysfunction, hearing loss

A

MPS in general

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121
Q

Defects in glycogen breakdown lead to

A

fasting hypoglycemia

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122
Q

“fast twitch” muscles use

A

glucose as preferred energy source

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123
Q

Defects in glycogen breakdown lead to energy deficit

A

Weakness, pain, cramping, muscle breakdown after exercise

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124
Q

Hepatosplenomegaly, FTT, progressive cirrhosis, liver failure, myopathy/cardiomyopathy

A

GSD IV

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125
Q

Spectrum of severity for GSDs

A

GSD1 is most severe, GSD VI is least severe

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126
Q

Leukodystrophy

A

Brain white matter changes on MRI

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127
Q

CK or CPK

A

Muscle enzyme, elevation indication of muscle breakdown

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128
Q

Infantile presentation: loss of skills, seizures, swallowing difficulties, no organomegaly (Loss of ALL skills at 12 months, unresponsive and seizures)

129
Q

Cause of death in Tay-Sachs

A

Respiratory deficiency by 2 - 4 years

130
Q

Infantile onset (weakness, stiffness, scissoring of legs, opisthotonic posturing (head back, back arched), irritability, excessive startle to loud noise, no organomegaly, normal eye findings

A

Krabbe disease

131
Q

galactocerebrosidase deficiency

132
Q

Treatment by hemapoietic stem cell transplant

A

(bone marrow transplant) - Krabbe disease

133
Q

Weakness, floppiness, heart enlargement (cardiomegaly), CK elevated, Abnormal EKG (short PR interval), no hypoglycemia or liver enlargement, progressive heart and respiratory failure

A

Pompe disease (infantile - death in first year)

134
Q

High carb diet may help

A

Muscle GSDs

135
Q

Weaknes, cardiomeagly, fasting intolerance, lipid myopathy, abnormalities on acylcarnitine profile

A

VLCAD or other long chain FAOD

136
Q

Supplementation with medium chain triglycerides may help

137
Q

Hepatomegaly, myopathy, lactic acidemia, Short Fasting period (<6 hours)

A

Glycogen Storage Disorders

138
Q

Lethargy, vomiting, transient hepatomegaly/liver failure, may have cardiomyopathy, no lactic acidosis, sudden death

139
Q

Produces ATP, not glucose directly

A

Fatty acid oxidation

140
Q

_ do not require carnitine for oxidation

A

Medium chain fatty acids

141
Q

Produce glucose from carbon skeletons of amino acids, lactic acidemia, +/- hepatomegaly, normal organic acids

A

Disorders of gluconeogenesis

142
Q

Permanent hepatomegaly, uncommon muscle weakness, severe hypoglycemia after short fast, lactic acidema (may be severe), hyperlipidemia, hyperuricemia

A

Von Gierke’s disease (GSD Type I)

143
Q

Management: frequent feedings, cornstarch q6h, nighttime NG or G-tube drip feeds

A

GSD type I (von Gierke’s)

144
Q

Hepatomegaly, +/- myopathy (cardiac involvement in some), severe hypoglycemia, lactic acidemia, hyperlipidemia, hyperuricemia, liver symptoms may resolve by adulthood, progressive hypertrophic cardiomyopathy

A

GSD Type III (Cori or Forbes disease)

145
Q

Inheritance pattern of phosphorylase kinase

A

X-Linked (GSD)

146
Q

Hepatomegaly, fasting hypoglycemia, mild lactic acidemia, mild hyperlipidemia

A

Types VI and up of GSD’s (Hers disease, unnamed)

147
Q

Dicarboxylic aciduria with acyl-glycines on UOA

148
Q

Hydroxydicarboxylic aciduria on UOA

149
Q

What do you order for a suspected FAOD?

A

UOA, carnitine level, acyl-carnitine profile

150
Q

Female heterozygotes at higher risk for HELLP (Hypertension, Elevated Liver enzymes, Low Platelets) during pregnancy - acute fatty liver of pregnancy

151
Q

Trifunctional enzyme deficiency, Hypoketotic hypoglycemia, cardiomyopathy, some with retinopathy

152
Q

Disorders of gluconeogenesis

A

Pyruvate Carboxylase Deficiency

Fructose-1,6-bisphosphatase deficiency

153
Q

Fasting hypoglycemia associated with lactic acidemia, +/- hepatomegaly, organic acids normal (except lactate)

A

Disorders of gluconeogenesis

154
Q

Hypoglycemia, lethargy after more prolonged fasting, poor response to metabolic stress, salt wasting (low blood sodium)

155
Q

_ increases positive predictive value

A

Disease frequency

156
Q

Recommended Core Panel for NBS

A

34 conditions: 9 organic acidemias, 5 FAOD, 6 amino acidopathies, 2 endocrine, 3 hemoglobinopathies, 9 others

157
Q

Elevated 17-OHP

A

CAH testing

158
Q

Arginine supplementation

A

Urea cycle defects

159
Q

Citrulline supplementation

A

CPS or OTC

160
Q

Thiamin supplementation

161
Q

Tetrahydrobiopterin supplementation

162
Q

B6 supplementation

A

Homocystinuria

163
Q

B12 supplementation

A

Methylmalonic aciduria

164
Q

Liver transplant helpful in

A

Urea cycle defects, Tyrosinemia (liver failure), Methylmalonic acidemia (WITH a kidney transplant)

165
Q

Hematopoietic stem cells (bone marrow) helpful in

A

LSD’s (specifically MPS and Krabbe), Hemoglobinopathies

166
Q

ERT helpful in

167
Q

Cabbage smell

A

Tyrosinemia

168
Q

Onset between 4 - 8 years of age, progressive neurodegenerative decline, behavioral and learning deficits, seizures, adrenocortical dysfunction, total disability and early death 6 months to 2 years after onset

A

X-linked Adrenoleukodystrophy: childhood cerebral form

169
Q

Progressive stiffness and weakness in the legs, abnormal sphincter control, sexual dysfunction, adrenocortical dysfunction, neuropathy, 40-50% with leukodystrophy, onset in 20s

A

Adrenomyeloneuropathy (form of X-linked Adrenoleukodystrophy)

170
Q

Adrenal insufficiency in the absence of MRI/brain anomalies, increased skin pigmentation from excess ACTH

A

Addison’s disease (isolated)

171
Q

Corticosteroid replacement therapy

A

X-linked Adrenoleukodystrophy

172
Q

Alpha-glucosidase deficient

A

Pompe Disease

173
Q

Myophosphorylase deficient

A

McArdle Disease

174
Q

Galactosylceramidase deficient

A

Krabbe Disease

175
Q

Slowly progressive neurodegeneration, progressive muscle wasting, dysarthria, fasciculations, cognitive dysfunction, dementia, psychiatric problems, psychosis, can be indistinguishable from progressive adolescent-onset SMA or ALS

A

Adult-Onset Tay Sachs

176
Q

Sweaty Feet

A

Isovaleric Acidemia (can also be glutaric acidemia)

177
Q

Metabolic acidosis, protein aversion, thrombocytopenia, vomiting, poor feeding, coma, seizures, DD, 50% severe acute neonatal with rapid death, 50% chronic and episodic with asymptomatic intervals

A

Isovaleric Acidemia (Biotin deficiency can mimic this)

178
Q

Dietary leucine restriction and glycine supplementation during acute episodes

A

Isovaleric Acidemia

179
Q

ID, DD, growth retardation, opisthotonic posturing, dysphagia, self-injuring behavior, hyperuricemia, renal failure

A

Lesch-Nyhan Syndrome (X-LINKED)

180
Q

Affected females typically only present with hyperuricemia

A

Lesch-Nyhan

181
Q

Respiratory alkalosis, hyperammonemia, vomiting, lethargy, seizures, coma, untreated = ID/DD

A

General symptoms of Urea cycle disorders

182
Q

Proximal Urea cycle disorders

A

CSP1, NAGS, OTC (NO A’s)

183
Q

Distal Urea Cycle Disorders

A

ASS, ASL, ARG (ALL A’s)

184
Q

Absent or low citrulline (plasma concentration)

A

Proximal disorders of urea cycle (CSP1, NAGS, OTC)

185
Q

Elevated Citrulline (plasma concentration)

A

Distal urea cycle disorders (ASS, ASL, ARG)

186
Q

Dietary protein restriction

A

Urea cycle disorders

187
Q

Medications that provide alternate pathways for ammonia removal

A

Urea cycle disorders

188
Q

Nitrogen scavenger therapy

A

Proximal Urea cycle disorders (CSP1, NAGS, OTC)

189
Q

Function within the mitochondria

A

Proximal Urea Cycle Disorders (CSP1, NAGS, OTC)

190
Q

Elevated ammonia levels, severe lethal neonatal onset or less severe later onset later

A

CPS1 (Carbamoyl phosphate synthetase 1)

191
Q

Elevated ammonia levels, N-acetylglutamate synthetase

192
Q

Most common urea cycle disorder

193
Q

Elevated ornithine, uracil, and orotic acid. May present neonatally or in childhood after illness or high protein intake

194
Q

Elevated citrulline

A

ASS (Arginosuccinic acid synthetase)

195
Q

Elevated citrulline and argininosuccinic acid

A

ASL (arginosuccinic acid lyase)

196
Q

Elevated arginine, hyperammonemia is rarely present, slower onset and muscle weakness is often present

A

ARG (Arginase)

197
Q

COPD with otherwise unknown etiology, liver disease at any age, C-ANCA Positive vasculitis, necrotizing panniculitis (inflammation of the fatty fibrous tissue directly beneath the skin)

A

Alpha-1-Antitrypsin Deficiency

198
Q

Classic triad of hypotonia, head lag, and macrocephaly

A

Canavan disease

199
Q

Leukodystrophy, hypo or hypertonia, ID, motor skill regression, feeding difficulties, poor head control, macrocephaly, paralysis, blindness, seizures, shortened lifespan (teens)

A

Canavan disease

200
Q

Most common human enzymatic disorder

A

Glucose-6-phospate Dehydrogenase Deficiency (G6PD)

201
Q

Inheritance of G6PD

202
Q

Prolonged neonatal jaundice (can lead to kernicterus if untreated), hemolytic crisis (rupturing of RBC’s) in response to triggers (illness, antimalarial drugs, analgesics, sulfonamides, certain foods (FAVA BEANS), certain chemicalse), diabetic ketoacidosis, a severe crisis can lead to kidney failure, presentation is USUALLY mild

203
Q

G6PD may confer some protection against

204
Q

Avoid Fava beans

205
Q

Common in African, MIddle-Eastern, and Southeast Asian descent

206
Q

Elevated serum ferritin

A

Hemochromatosis

207
Q

Hepatomegaly, cirrhosis, hepatocellular carcinoma, diabetes, cardiomyopathy, hypogonadis, arthritis, progressive increase in skin pigmentation

A

Hemochromatosis

208
Q

Treatment:

Low iron diet, therapeutic phelebotamy, liver transplant may be required if substantial damage

A

Hemochromatosis

209
Q

Elevated serum 7DHC

A

Smith Lemli Optiz

210
Q

moderate to severe ID, microcephaly, behavior (aggression, self-injury, autism), sensory hypersensitivity, strabismus, cataracts, CHD, Gi issues, pyloric stenosis, feeding difficulties, renal anomalies

211
Q

2,3-syndactyly of toes

212
Q

Postaxial polydactyly of hands/feet, ambiguous genitalia, hypospadias, bitemporal narrowing, short and upturned nose, ptosis, micrognathia, epicanthal folds, capillary hemangioma of the nose

213
Q

Kayser-Fleischer rings

A

Wilson Disease (copper rings on irises)

214
Q

Liver disease (recurrent jaundice, hepatitis, fatty liver, hemolytic anemia), neurologic disease (tremors, poor coordination, loss of fine motor control, chorea, spastic dystonia), Psychiatric manifestations (depression, aggression, phobias, antisocial behavior, poor memory, shortened attention span)

A

Wilson disease

215
Q

Minor features: renal problems, arthritis, pancreatitis, cardiomyopathy, sunflower cataracts

A

Wilson disease

216
Q

Leukodystrophies

A

Krabbe, Metachromatic leukodystrophy, X-Linked Adrenoleukodystrophy, Canavan disease, Mito disease. ALL ARE PROGRESSIVE AND NEURODEGENERATIVE.

217
Q

Globoid cell leukodystrophy

A

Early irritability (Krabbe)

218
Q

Metachromatic Leukodystrophy

A

Vision loss

219
Q

X-linked leukodystrophy

A

Behavioral changes

220
Q

Leukodystrophy with macrocephaly

A

Canavan disease

221
Q

Fasting intolerance, liver enlargement/dysfunction, recurrent vomiting/lethargy/coma, cardiomyopathy

222
Q

Hypoketotic hypoglycemia, low carnitine, abnormal organic acids, abnormal acylcarnitines and acylglycines, +/- hyperammonemia, +/- hyperuricemia

223
Q

Adult onset cases may present with muscle cramping and myoglobinuria

224
Q

Low ketone production

A

MCAD, LCHAD, VLCAD, and carnitine transport disorders

225
Q

Significant ketosis

226
Q

Most common cause of CAH

A

21-OH deficiency, increased 17-OH progesterone which causes increased androgens - salt wasting and virilization of pregnant moms

227
Q

At risk areas of brain scans in metabolic disease

A

Basal ganglia (stroke-like episodes), White matter, Infarction (stroke like episodes)

228
Q

Basal ganglia (stroke like episodes) metabolic disorders

A

organic acidemias (glutaric acidemia type I, propionic and methylmalonic acidema)

229
Q

White matter changes

A

Leukodystrophies

230
Q

Can see _ on brain MRI from hyperammonemia

A

Infarction

231
Q

Glutacylcarnitine suggests a possible diagnosis of

A

Glutaric acidemia types I or II

232
Q

Acylcarnitine specimens obtained when the patient is _ may be the most informative, although specimens when the patient is _ may also be diagnostic

A

Sick, healthy

233
Q

Aclyglycines are ordered to

A

diagnose FAOD and organic acidemias

234
Q

Phenylketones are or are not usually seen in healthy people

A

ARE NOT (indicates problems with PAH)

235
Q

Archibald Garrod

A

Father of Biochem Geneics. Seminal paper written on alkaptonuria in 1902. Coined “IE of M”

236
Q

IE of M symptoms are due to

A

small molecules accumulation of substrates or deficiency of products; generally recessive (consequence of kinetic properties of enzymes)

237
Q

A liver transplant may be effective in treating

A

Severe FH, Alpha-1 Antitrypsin deficiency, OTC deficiency

238
Q

crm + or - (which one is more difficult to treat)

239
Q

crm

A

cross reacting material. reflect amount of protein, not how active the enzyme is

240
Q

fibroblast studies require a

A

skin biopsy and culture

241
Q

Acylcarnitine profile

A

Blood is preferred. Tandem mass spec. Acylcarnitines reflect intracellular acyl-CoA’s. CoA species themselves are only intracellular.

242
Q

Urea cycle disorders

A

CPS, Citrullinemia, NAGS, Argininosuccinic aciduria, Arginase deficiency, OTC deficiency

243
Q

Organic acids

A

Uses GC/MS. Usually urine. Methylmalonic acid, propionic acid, isovaleric acid, branched chain ketones in MSUD. Generally derivatives of AA’s.

244
Q

Irritable, refused to feed DOL4, lethargy, pale, hypotonic, poorly responsive, primary respiratory alkalosis, very high ammonia, apneic requiring intubation an dventilation, generalized seizure, hemodialysis, IV = sodium benzoate, sodium phenylacetate, and L-arginine

A

OTC presentation

245
Q

Primary respiratory alkalosis

246
Q

Urinalysis

A

Can identify renal tubular disease (e.g. in tyrosinemia I, galactosemia, mito disease). The kidney has trouble absorbing glucose, bicarbonate, and other analytes.

247
Q

Oozing from phlebotomy sites

A

Tyrosinemia type I

248
Q

Rickets

A

Tyrosinemia type I

249
Q

Increased ph and glucose on urinalysis

A

Tyrosinemia type I

250
Q

Urine ketones

A

Helpful in detecting and monitoring organic acidemias or in distinguishing ketotic (normal) from hypoketotic hypoglycemia (abnormal in fatty acid oxidation defects and glycogen storage disease I)

251
Q

Urine reducing substances

A

If positive, indicates a reducing substance (e.g. glucose, galactose, fructose). Glucose is most common reducing substance.

252
Q

Worry if the diagnostic urine specimen is _ but _. Could mean galactosemia or fructose intolerance.

A

Negative for glucose, but positive for reducing substances.

253
Q

Acute metabolic liver disease

A

Tyrosinemia type I and galactosemia (liver: liver failure, cirrhosis, ascites, coagulopathy, fasting intolerance)

254
Q

Acute fatty liver

A
  • “Reye syndrome-like disease”
  • FAOD.
  • Urea cycle defects.
255
Q

GAA gene

256
Q

DD, LD, Insensitivity to pain; self-injurious behavior, renal stones (uric acid), hyperuricemia

A

Lesch-Nyhan (X-linked)

257
Q

Gram negative sepsis

A

Galactosemia

258
Q

Neutropenia

A

Propionic acidemia, methylmalonic acidemia, GSD type 1B

259
Q

Pancytopenia

A

Pearson syndrome (mito)

260
Q

Neutropenia and splenomegaly

261
Q

Otitis media, respiratory infections, splenomegaly

262
Q

Metabolic acidosis

A

When HCO3 is low

263
Q

Secondary respiratory alkalosis

A

Organic acidemias, when both pH and pCO2 is low

264
Q

The body does not store amino acids or protein. Whatever is not used is _

A

degraded, producing waste nitrogen (ammonia).

265
Q

Arginase deficiency

A
  • Urea cycle defect
  • usually presents with chronic neurologic presentation (e.g. DD and spastic diplegia)
  • Acute hyperammonemic crises are uncommon
266
Q
  • Often associated with chronic liver enlargement/dysfunction
  • May be associated wtih trichorrhexis nodosa (kinky hair)
A

Argininosuccinic Aciduria

267
Q

Kinky hair

A

Menkes (X-linked recessive, affects copper levels) or Argininosuccinic aciduria (urea cycle disorder)

268
Q

Macrocephaly, unusual fluid collections (pre-frontal and temporal lobes), “metabolic stroke-like features” causing severe dystonia and motor impairment.

A

Glutaric acidemia type I

269
Q

Motor delays, seizures, hyperactivity, inattentiveness, ID, dry and scaly skin, psych disturbances, hypopigmentation, eczema

270
Q

What is salt wasting?

A

Low sodium, high potassium due to aldosterone deficiency

271
Q

Metabolic disorders that present prenatally

A
  • Zellweger syndrome
  • Glutaric acidemia type II
  • Pyruvate dehydrogenase complex deficiency
  • Carbohydrate-deficient glycoprotein syndromes
  • Smith-Lemli-Opitz syndrome
272
Q

MPS with hydrops fetalis

A

Sly syndrome

273
Q

MPS with most severe skeletal disease, normal intelligence

274
Q

MPS with mildest somatic symptoms, frequently have behavioral problems with progression to severe neruologic disease

A

Sanfilippo

275
Q

Normal intelligence MPS

A

Morquio and Maroteaux-Lamy

276
Q

Earliest onset and most severe MPS

A

Hurler syndrome

277
Q

MPS with X-linked inheritance

A

Hunter syndrome

278
Q

Alpha-L-iduronidase

A

MPS 1 (Hurler)

279
Q

Iduronate 2-sulfatase

A

MPS 2 (Hunter)

280
Q

Arylsulfatase B

A

MPS VI (Maroteaux-Lamy)

281
Q

Beta-glucuronidase

A

MPS VII (Sly)

282
Q

Increased Keratan Sulfate (Glycosaminoglycans - GAGs)

A

MPS IV (Morquio)

283
Q

Increased Dermatan Sulfate and Heparan Sulfate (Glycosaminoglycans - GAGs)

A

MPS I, MPS II, MPS VII

284
Q

Increased Heparin Sulfate

285
Q

Increased Dermatan Sulfate

286
Q

Increased pH, decreased pCO2 and HCO3

A

Urea cycle disorders - primary respiratory alkalosis and secondary metabolic acidosis

287
Q

Primary respiratory alkalosis and secondary metabolic acidosis

A

Urea cycle disorders (increased pH, decreased pCO2 and HCO3)

288
Q

In urea cycle disorders, _ acts as a central respiratory stimulant causing _

A

NH3 (ammonia), causing hyperventilation and a decreased in CO2.

289
Q

How to distinguish CPS from OTC

A

orotic acid is significantly elevated in OTC and low to low-normal in CPS

290
Q

Urea cycle defects that do NOT exhibit high orotic acid excretion in the urine

A

NAGS and CPS deficiencies (OTC has significantly elevated)

291
Q

Clinical phenotype of OTC deficiency in females

A

Can be symptomatic later in life in times of metabolic stress. This can happen as a result of anorexia, starvation, malnutrition, pregnancy or even as a result of gastric bypass surgery. Approximately 15% of females develop hyperammonemia during their lifetime and may require chronic medical managemetn for hyperammonemia.

292
Q

Primary metabolic acidosis and secondary respiratory alkalosis

A

Organic acidemias - TOO MUCH ACID, the body does not want to be acidotic so rapid breathing and excess releas of CO2 generates a respiratory alkalosis.

293
Q

Low pH, pCO2, HCO3

A

Primary metabolic acidosis and secondary respiratory alkalosis (TOO MUCH ACID) - organic acidemias

294
Q

Increased incidence in Mennonite population

295
Q

Urea cycle disorders - Plasma arginine levels

A

Low in everything EXCEPT Arginase deficiency, in which it is increased 5 - 7 fold.

296
Q

Dietary therapies in metabolic disorders

A

Substrate restriction, altering feeding regimens, supplementation of the dietary product

297
Q

Chelating agents as therapy

A

Wilson disease

298
Q

Citrulline levels in Urea cycle defects

A

Decreased in NAGS, CPS, and OTC; increased in Citrullinemia type I, Argininosuccinic aciduria, and Arginase deficiency

299
Q

Citrulline is a product of _ and _ but a substrate for _

A

CPS I and OTC but a substrate for the distal enzymes

300
Q

Fair complexion in PKU is due to

A

tryosine deficiency

301
Q

“doll-like facies”

A

von Gierke disease

302
Q

Aversion to sweets over time

A

Hereditary fructose intolerance

303
Q

ASS is also known as

A

Citrullinemia

304
Q

Prenatal onset, dysmorphic, hypotonia, seizures, liver disease, death within months

A

Zellweger disease (leukodystrophies - peroxisomal disorder)

305
Q

Neurologic phenotypes

A
  • Zellweger (peroxisoma)
  • Pompe
  • Lesch-Nyhan
  • Menkes
  • PKU
306
Q

Hypotonia, seizures, eczema, alopecia, hearing loss, retinal disease

A

Biotinidase Deficiency

307
Q

Bilateral infarcts of the thalamus

A

Methylmalonic acidemia

308
Q

Neonatal onset, profound DD, pili torti (kinky hair), hypopigmentation, hypotonia, Wormian bones, bladder diverticuli, death within first year

A

Menkes disease

309
Q

Measure _ in any patient with unexplained lethargy or altered sensorium

310
Q

Peroxisomal disorders

A

Zellweger, infantile Refsum, and X-linked Adrenoleukodystrophy

311
Q

ID, painful palmoplantar hyperkeratosis, keratits (inflammation of cornea), excessive tearing, photophobia

A

Tyrosinemia type II

312
Q

Normal at birth, followed by mild motor weakness, myoclonic jerks, increased startle response, decreased visual attentiveness, cherry-red spot, death by age 4

A

HEXB gene - Sandhoff disease, LSD

313
Q

Severe metabolic liver disease is often associated with _

A

Kidney disease (renal tubular disease to renal Fanconi syndrome)

314
Q

Orthopedic anomalies, thoracic deformity, club feet, kyphoscoliosis, thickening of mitral and aortic valves, ventricular hypertrophy. Poor eaters, respiratory difficulties, slight corneal clouding, DD, cognitive delay, happy disposition

A

Mucolipidosis type II (LSD)

315
Q

How is arginase deficiency different from the other urea cycle defects?

A
  • Neurocognitive abnormalities such as ADHD, DD/MR, and seizures
  • Hepatitis and cirrhosis
  • Trichorrhexis nodosa
  • Systemic hypertension
316
Q

Anorexia

A

UREA CYCLE

317
Q

Frequently elevated PAA in urea cycle disorders

A

Glutamine, alanine and asparagine

318
Q

Cystine precipitates and forms calculi (kidney stones) in urinary tract, renal obstruction and infection, renal insufficiency

A

Cystinuria

319
Q

Abdominal pain, vomiting, dehydration, constipation, diarrhea, limb pain, peripheral neuropathy with weakness, seizures, fever, tachycardia, hypertension, fainting, sweating, depression hysteria, anxiety, paranoia.

A

Acute intermittent porphyria

BOARDS (6 decks)

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