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Neontal boards J > inborn errors of metabolism > Flashcards

inborn errors of metabolism Flashcards

1
Q

deficiency in pku

A

phenylalanine transferase (cant convert phe to tyrosine); mild problem with BH4

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2
Q

lab results for pku

A

UOA: inc phenylketones
PAA: inc Phe, low tyrosine

due to low tyrosine-
1. low neurotransmitters: dopamine, norepinephrine, and adrenaline
2. fair skin (Tyr is a precursor of the skin pigment melanin)

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3
Q

PKU as teratogen (features)

A

dysmorphic features, microcephaly, IUGR, congenital heart

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4
Q

clinical features in infant with PKU

A

fair skin

eczematoid rash

mousy/musty odor

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5
Q

treatment of PKU

A

restrict phe, BH4 supplement

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6
Q

first test for change in mental status

A

blood glucose

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7
Q

condition could falsely elevate NH4

A

use torniquet, prolonged process in lab (result in 1 hr), no ice

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8
Q

how to collect NH4

A

free flow, ice, process within 1 hr

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9
Q

Condition with elevated lactate:pyruvate

A

mitochondrial d/o

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10
Q

What presents with elevated plasma AA

A

aminoacidopathies, urea cycle, organic acedemia

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11
Q

What presents with abnormal urine organic acid

A

AA, FAOD, organic acid

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12
Q

Mode of inheritance of aminoacidopathies

A

autosomal recessive

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13
Q

Labs suggestive urea cycle do

A

AbN PAA, elevated NH4, respiratory alkalosis

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14
Q

Labs suggestive Organic Acids

A

Abn PAA, metabolic acidosis, AbN UOAs

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15
Q

Deficiency in MSUD

A

branched chain alpha ketoacid dehydrogenase

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16
Q

What are the Branched-chain AA

A

Isoleucine, valine, LEUCINE

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17
Q

MSUD and ethnic group

A

Old order Mennonites

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18
Q

presentation MSUD

A

diminished arousal

poor feeding

hypertonia

coma

death

maple syrup smell

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19
Q

which branched-chain AA causes Sx in MSUD

A

Leucine (neurotoxic and osmotic effect)

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20
Q

Acute mgt of MSUD

A

high dextrose isotonic Iv and lipids; serum Na high normal

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21
Q

long term mgt for MSUD

A

diet, liver transplant

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22
Q

deficiency in homocystinuria

A

cystathionine beta synthetase

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23
Q

labs finding homocystinuria

A

elevated homocysteine and methionine in blood, urine, NBS, plasma AA

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24
Q

clincal features of homocystinuria

A

intellectual disability

tall stature

osteoporosis

recurrent thrombosis

ectopia lentis (lens dislocation- downwards)

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25
Q

differential for homocystinuria

A

marfans

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26
Q

Management of homocystinuria

A

vit B6 (cofactor)

betaine (dec homocysteine in bld)

aspirin (prevent stroke)

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27
Q

deficiency in tyrosinemia (hepatorenal tyrosinemia)

A

fumarylacetoacetase

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28
Q

pathognomonic tyrosinemia

A

inc tyrosine (lacks specificity and sensitivity) must differentiate from transient tyrosinemia of newborn

inc urine and bld succinyl acetone

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29
Q

Confirmation tyrosinemia

A

UOA: succinylacetone

PAA inc tyrosine and methionine (liver issue)

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30
Q

Treatment tyrosinemia

A

Nitisinone, tyrosine restrict

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31
Q

Deficiency Hyperglycinemia (nonketotic hyperglycinemia)

A

deficiency in glycine cleavage

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32
Q

lab and clinical findings in hyperglycinemia

A

inc CSF glycine

seizure

hiccups

apnea

Absent corpus collosum

EEG burst supression

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33
Q

urea cycle

A

A- N-acetylglutamate synthetase

B- Carbamyl phosphate synthetase

C- Ornithine carbamyl transferase

D- Arginosuccinic acid synthetase

E- Argininosiccinic lyase

F- Arginase

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34
Q

findings in urea cycle oct def

A

high: glutamine, orotic acid
low: citrulline, arginine

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35
Q

urea cycle def arginosuccinic acid synthetase

A

high: glutamine, orotic acid, citrulline low: arginine

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36
Q

urea cycle arginase def

A

cant change arginine last step- all high: glutamine, orotic acid, citrulline, arginine

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37
Q

Which inborn metab defect is X-linked recessive

A

OCT (ornithine carbamyl transferase)

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38
Q

Treatment to remove ammonia

A
  1. hemodialysis (fastest)
  2. Hydration
  3. Remove nitrogen: sodium benzoate and sodium phenylacetate- scavenger, water soluble
  4. Sodium phenylbutyrate- once stable
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39
Q

What to monitor when treating with Benzoate for NH4

A

Na and Cl

(high Na content, hence improtance of hydration)

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40
Q

What affects outcome for urea cycle DO

A

length of time with high NH4

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41
Q

Outcome/Risk for arginase deficiency

A

Spastic diplegia

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42
Q

What is organic acids

A

deaminated remains of amino acids

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43
Q

What is lab finding for organic acidemia

A
  1. metabolic acidosis with elevated anion gap
  2. NBS: odd chain acylcarnitine (C3, C5)
44
Q

Treatment of acute episode organic acidemia (6)

A
  1. high dose carnitine
  2. IVF D10 with NS
  3. IV lipid
  4. Insulin (anabolic)
  5. Biotin and Vit B12 (cofactor)
  6. Glycine (binds to nontoxic form)
45
Q

lab findings pathognomic of urea cycle DO

A

Elevated ammnonia

Respiratory alkalosis

No ketoacidosis

46
Q

What is the major metabolite of AA and lipid

A

Propionyl-CoA

47
Q

Defect in glutaric acid acidemia

A

defect in glutaryl CoA dehydrogenase (metabolism of tryptophan and lysine)

48
Q

Ethnic group associated with glutaric acidemia

A

Amish

49
Q

Which organic acidemia does not present with metabolic acidosis, ketosis and hyperammoniemia

A

Glutaric acidemia

50
Q

Long term morbidity in glutaric acidemia

A

Involuntary movements (due to basal ganglia injury)

51
Q

What organic acidemia is child abuse a differential?

A

Glutaric acidemia (risk for subdural hemorrhage and retinal hemorrhage)

52
Q

What triggers the sequela of glutaric acidemia

A

Fever

(resulting in dystonia and movement disorder)

53
Q

Associated with sweaty feet

A

Isovaleric aciduria

54
Q

Associate with male cat urine

A

3 methylcrotonyl glycinuria

55
Q

Key feature of FAOD (fatty acid oxidation do)

A

hypoketotic hypoglycemia with prolonged fasting

56
Q

Long Term complication of LCHAD and VLCAD

A
  1. rhabdomyolysis
  2. cardiomyopathy
  3. liver dysfunction
  4. retinopathy
  5. peripheral neuropathy
57
Q

Complication of heterozygous LCHAD preg women

A
  1. fatty liver
  2. HELLP
  3. if with this- 1:5 chance of delivering baby with LCHAD
58
Q

Management with LCHAD

A
  1. frequent feed
  2. mct formula
  3. Avoid breastfeeding initially
59
Q

What AA is carnitine made by human de novo from?

A

Lysine and methionine

60
Q

What causes carnitine deficiency

A
  1. failure to synthasize (Glutaric acidemia)
  2. Defective carnitine transport (defect in OCTN2 carnitine transporter- dec intestinal absorption and renal reabsroption)
  3. Depletion of carnityl esters (FAO)
  4. preterm infants
61
Q

Function of carnitine

A
  1. Transport long chain FA into the mitochondria to produce energy
  2. Metabolic scavenger
62
Q

presentation of galactosemia

A
  1. poor feeding
  2. vomiting 2-3 DOL
  3. Jaundice- hepatomegaly, liver failure
  4. RTA (acidosis, glycosuria, aminoaciduira)
  5. Cataract (from excess galactitol)
63
Q

Sepsis from E coli think of…

A

galactosemia

64
Q

Long term risk with galactosemia even wth proper treatment

A
  1. premature ovarian failure
  2. tremors
  3. learning disability
65
Q

lab test for galactosemia

A
  1. LFT
  2. low glucose
  3. Inc galactose in urine (use clinitest- use to identify reducing substance)
66
Q

Management for galactosemia

A
  1. initiate tx immediately with positive NBS result
  2. No BM (avoid lactose and galactose)- switch to soy or elemental formula
  3. estrogen replacement for female
  4. screen for learning disability
67
Q

What are the 2 glycogen storage do can present in neonates

A
  1. von Gierke disease (type I)
  2. Pompe (type II)
68
Q

GSD that affects the liver with direct influence with blood glucose and present with lactic acidosis

A

Von Gierke

Enzyme: glucose 6 phosphatase

69
Q

Which GSD affects various tissue but no direct effect on blood glucose

A

Pompe (Type II)

Enzyme lysosomal alpha glucosidase

70
Q

which GSD can have cardiomyopathy

A

Pompe disease

71
Q

Which GSD can have hepatic tumor

A

Von Gierke

72
Q

Presents with introduction of formula, fruit or vegtables

A

fructosemia

  • contains sucrose (formula), fructose or sorbitol
73
Q

Which organelle digests complex molecules for recycling or degradation

A

lysosome

74
Q

Pathognomonic for mucopolysaccharidoses

A

Dystosis multiplex (defects of bones and joints)

Alder-Reilly bodies in WBC

Urine with mucopolysacharrides

75
Q

pathognomonic for lipid storage disease affecting the brain

A

Macular cherry red spot

(Gaucher does not have macular cherry- does not affect CNS)

76
Q

difference between lipidoses presenting in infancy

A
77
Q

symptoms of Tay-Sachs

A

from accumulation of sphingolipid GM2

  1. weakness
  2. exagerated startle
  3. myoclonic jerks
  4. mental regression (unresponsive to environment)
  5. cheery red spot
  6. progressive macroecphaly
78
Q

symptom of Gaucher dis Type I (Ga-OUCH)

A

from accumulation of glucocebroside in liver, spleen and bone marrow

  1. anemia/thrombocytopenia
  2. HSM
  3. bone pain
79
Q

Most common lysosomal storage disease

A

Gaucher Disease type 1

-non CNS disease with splenomegaly

Ethnicity: Ashkenazi Jews

80
Q

What is the late complication of propionic acidemia

A

Cardiomyopathy

81
Q

What are the findings in propionic acidemia

A

Severe ketoacidosis w or w/o hyperammonemia

Encephalopathy, vomiting, bone marrow suppression

82
Q

Infant presents normal at birth but few weeks later presents with:

hypotonia, muscle weakness

Macroglossia

Hepatomegaly

CHF due to hypertrophic cardiomyopathy

Elevated CPK, AST, LDH

Muscle biopsy: vacuoles full of glycogen on staining

A

Pompe disease

-defect in lysosomal acid alpha 1,4 glucosidase (acid maltase)

83
Q

What defect has cataract as the only finding (completely asymptomatic)

A

Galactokinase deficiency

Defect in chromsome 17

84
Q

What is mode of inheritance of Mekes disease

A

X-linked recessive disease (only in boys)

Impaired uptake of copper

85
Q

What is the triad of holocarboxylase synthetase or biotinidase deficiency

A

Alopecia

Skin rash (similar to acrodermatitis enteropathica)

Encephalopathy

86
Q

What is the bone marrow finding in niemann-pick

A

Foam cells

87
Q

Which lysosomal disease presents as infantile neurodegeneration

(inc muscle tone, profound irritabililty, FUO)

A

Krabbe disease

88
Q

Which GSD presents with heart failure, respiratory insuffiency, death

A

Pompe disease

  • accumulation of glycogen in lysosome of muscles

CK elevated, shortened P-R interval

89
Q

How are mitochondrial disorders transmitted

A

Point mutation in mitochondrial genome via maternal inheritance (Passed from mom)

Mode of inheritance: autosomal recessive

90
Q

most important function of mitochondria

A

production of cellular energy in the form of ATP from respiratory chain

  • result: dysfuntion in tissue with highes energy demand (brain, skeletal, cardiac)
91
Q

lab findings in mitochondrial do

A

Lactic acidosis (metabolic acidosis)

MELaS- myopathy, encephalopathy, lactic acidosis, stroke

Ragged red fibers (muscle myopathy)

92
Q

What is the defect in Wilsons disease

A

Hepatic copper transport

Deposition of copper in liver, cornea, basal ganglia, renal tubules

Mode of inheritance: Autosomal recessive

93
Q

What are the clinical symptoms of Wilsons

A

hepatic disease

neurologic

hemolysis, dyarthria, extrapyramidal movement

kayser fleischer ring (eye exam)

94
Q

What is the defect in Menkes disease

A

Defect in copper membrane transport channel leading to poor absorption and distribution of copper

95
Q

What is the treatment for Wilsons

A

D-penicillamine (chelate copper)

96
Q

What are the clinical symptoms of Menkes

A

Brittle kinky steely hair

Pudy sagging lips abN eyebrow

skin and joint laxity, wormian bones, osteoporosis

97
Q

Diagnosis of Wilson and Menkes

A

Low ceruloplasmin

genetic testing

98
Q

What are peroxisome

A

cellular organelle with disparate function: oxidation of very long chain fatty acids

results in neurodegenerative do

99
Q

what is Zellweger syndrome

A

also known as neonatal adrenoleukodystrophy

findings:

  1. dysmorphic features (prominent forehead, wide open fontanel, hypertelorism, broad flat nasal brdige, micrognathia)
  2. liver disease, cholestasis
  3. bone involvement (calcified stippling)
  4. hypotonia
  5. hearing and vision deficits
100
Q

What is the deficiency in galactosemia type II

A

Galactokinase

-Long term complication: Cataract and pseudotumor cerebri (due to osmotic effect of galactitol)

101
Q

What is deficient in Niemann-Pick

A

Sphingomyelinase

102
Q

What is the defect in Gaucher

A

Glucocerbrosidase

103
Q

symptoms of biotinidase deficiency

A

neuro: seizure, hypotonia, ataxia, blindness, hearing loss

immune deficit

alopecia

developmental delay

104
Q

Sugar found in:

a. breastmilk
b. formula

A

a. lactose (galactose and glucose)
b. lactose plus sucrose (fructose and glucose)

105
Q

findings in transient hyperammonemia of the newborn

A

elevated ammonia in the 1st 24 HOL

normal PAA

No acidosis

106
Q

What medication can be considered for refractory seizures?

A

Pyridoxine

(Consider possible inborn error of metabolism- cofactor or vitamin deficiency)

Caution: apnea and respiratory compromise may occur during administration

107
Q

Neonate presents with
* cleft palate
* congenital heart disease
* hypospadias
* polydactyly
* syndactyly of the second and third toe

What is this condition?

A

Smith-Lemli-Opitz syndrome
* Diagnostic: elevated plasma 7-
dehydrocholesterol

Cholesterol synthesis

Neontal boards J (19 decks)

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