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Board Review > Metabolic Disorders > Flashcards

Metabolic Disorders Flashcards

1
Q

what happens when the transporter associated with carnitine uptake decificency isnt working?

A

carnitine gets wasted in the urine, low plasma levels

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1
Q

what makes up Friedrich ataxia?

A

hypoactive or absent DTRs, ataxia, corticospinal tract dysfunction, impaired vibratory function, HOCM, DM

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2
Q

what other metabolic disorder can be seen with methylmalonic acidemia?

A

homocystinuria (if has the enzyme deficit that blocks synthesis of methyl-B12)

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2
Q

how does CPT 2 present

A

exercise induced muscle pain and rhabdomyolysis

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3
Q

how does propronic acidemia present?

A

severe ketoacidosis +/- elevated ammonia, encephalopathy, vomiting, bone marrow suppresion, cardiomyopathy

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3
Q

organic acidemias can have what in common?

A

pancreatitis and bone marrow suppression

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3
Q

what physical findings occur in type 2 GSD?

A

infantile - cardiomegaly, hypotonia, death before age 1. juvenile - slowly progressive muscle involvement, no heart issues

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3
Q

what are children with galactosemia at risk for?

A

e. coli sepsis

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4
Q

what will be elevated in ornithine transcarbamoylase deficiency (OTC)

A

orotic acid levels

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4
Q

which type of MPS has predominately neurologic manifestations?

A

type 3, sanfilippo syndrome, inability to catabolize heparin sulfate

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5
Q

how is type 2 GSD (Pompe disease) different from other GSDs?

A

not an energy problem - it is a problem with accumulation of glycogen in lysosomes

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5
Q

what syndrome consists of ptosis, opthalmoplegia, and ragged-red fiber myopathy?

A

kearns-sayre syndrome (mitochondrial disorder)

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5
Q

how to diagnose acute intermittent prophyria?

A

measure hydroxymethylbiline synthetase in RBCs and look for abnormal porphobilinogen in the stool

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6
Q

if thinking that an amino acid disorder is present, what should you test?

A

urine organic acids and plasma amnio acids

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7
Q

how can you treat acute intermittent prophyria?

A

IV heme, IV glucose, narcotics,

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8
Q

what lab findings should make you think of type 1 GSD?

A

hyperlipidemia, elevated uric acid, hypoglycemia, elevated lactate

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8
Q

what are the two common hepatic porphyrias and how do they generally present?

A

acute intermittent porphyria, porphyria cutanea tarda —- neuropathy, mental disturbances, and abdominal pain

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9
Q

what is the enzyme defect in galactosemia?

A

deficiency of galactose 1-phosphate uridyltrasnferase — galactose will build up in liver, brain and kidney

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10
Q

what may come up in the history of a baby with nonketotic hyperglyceminia

A

in utero hiccups (and intractable seizures as a neonate)

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11
Q

what can cause clumsiness, intention tremor, dysarthria, proximal muscle weakness, and fasiculations?

A

juvenile tay-sachs

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12
Q

how does galactosemia present?

A

jaundice, HSM, hypoglycemia, irritability, cataracts, MR, vitreous hemorrhages, ascites, vomiting, seizures

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12
Q

what syndrome looks like hurlers but has hyperplastic gums?

A

mucolipidosis type II (I-cell deficiency)

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13
Q

when will type 1 GSD typically present?

A

age 3-4 months when babies start to space out feeds more and sleep through the night (more periods of fasting)

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13
Q

what will you see on muscle biopsy in type 2 GSD?

A

vacuoles filled with glycogen

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15
Q

what do you treat glutaric acidemia type 1 with?

A

L-carnitine, riboflavin, special diet

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16
Q

lab findings in type 5 GSD?

A

high CPK after exercise, elevated ammonia after exercise, normal lactate after exercise (muscle cells unable to use glucose effectively)

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16
Q

what is the defect in smith-lemli-optiz?

A

defect in cholesterol biosynthesis

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18
Q

what clues will you see with urea cycle defect?

A

resp alkalosis, low arginine, low BUN, high ammonia with relative normal liver function

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18
Q

what can cause achilles xanthomas?

A

familial hypercholesteroemia (AD transmission)

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19
Q
A

lemli-smith-optiz

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20
Q

what population is tay sachs more common in?

A

ashkenazi jews (also gaucher type 1)

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20
Q

how do patients with porphyria cutanea tarda present?

A

photosensitvity with bullae and vesicle eruption, milia, hypertrichosis and hyperpigmentation

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21
Q

how do you treat MCAD?

A

IV glucose and bicarb, avoid fasting,

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21
Q

what causes gaucher type 1?

A

deficiency of lysosomal glucocerebrosidase

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23
Q

how do you test for hyperglycinemia?

A

compare CSF to serum glycine levels

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24
Q

what is the only sphingolipidoses transmitted in X-linked fashion?

A

Fabry disease

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25
Q

how does Fabry disease present?

A

bone pain in hands and feet in adolescent boys, heat exposure and physical exertion will set off pain crises, patient will not sweat

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26
Q

what happens if you give glucagon or epinephrine to someone with type 1 GSD?

A

nothing, no rise in blood sugar

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27
Q

symptoms of hunters (MPS 2)

A

coarse facial features, learning difficulties, HSM, joint stiffness, *Nodular rash around scapula and extensor surfaces*

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29
Q

all amino acid disorders are inherited how?

A

AR

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30
Q

how do you treat fatty oxidation disorders?

A

l-carnitine

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32
Q

what is the deficiency in alkaptonuria?

A

homogentistic dixoygenase

34
Q

what is the common presentation of pku

A

mousy/musty odor, vomiting, irritability, eczematoid rash, fair-haired, fair-skinned

34
Q

all urea cycle disorders except which one are AR?

A

OTC deficiency (x-linked)

35
Q

what type of lens dislocation is seen with homocystinuria?

A

lenticular subluxation that is downward and medial (marfan’s is upward) — (think downward/low IQ and upward/normal IQ)

36
Q

how is Friedrich’s ataxia inherited?

A

AR

37
Q

what are kids at risk for with Hurlers?

A

atlantoaxial subluxations, corneal clouding

38
Q

what should you think of when you see “odor of sweaty feet”?

A

isovaleric acidemia

39
Q

how does type 5 GSD (McArdle’s) present?

A

muscle cramps related to exercise, usually in adults,

40
Q

which metabolic disease can cause subdural hematomas and retinal hemorrhages?

A

glutaric aciduria type 1 (autosomal recessive)

41
Q

what do all forms of gaucher disease have in common?

A

HSM, bone involvement, lung involvement

42
Q

what types of neurologic involvement do kids with type 3 MPS have?

A

devel delay, severe and challenging behaviors and aggression, hyperactivity

44
Q

where does fatty oxidation occur?

A

mitochondria - so think of that when thinking of symptoms (hepatic, skeletal, muscular, cardiac)

44
Q

what is the deficiency in MPS type 4?

A

galactose-6-sulfatase, can’t degrade keratin sulfate

46
Q

what blood gas finding is suggested of an urea cycle defect?

A

respiratory alkalosis! (not a metabolic acidosis that you would see with sepsis)

47
Q

what lab findings are present with maple syrup urine disease?

A

high leucine, isoleucine and valine in plasma and urine (also will see alloisoleucine)

48
Q
A

menkes

49
Q
A

Hurler syndrome

51
Q

what urine abnormality is suggestive of alkaptonuria?

A

urine will look normal but then turn dark brown/black after being oxidized in the air

52
Q

what syndrome consists of coarse facial features, mid-face hypoplasia, skeletal abnormalities, umbilical/inguinal hernias, macrocephaly?

A

Hurler syndrome (mucopolysaccharidosis type 1) - will also see liver and cardiac disease

53
Q

how is smith-limli-optiz syndrome inherited?

A

AR

55
Q

what do you need to consider adding to children with high phenylalanine levels who do not respond to dietary changes?

A

biopterin - may be part of that subset - will have neurologic progression

56
Q

what treatment is available for gaucher?

A

enzyme replacement - doesnt help neuro deficits

57
Q

what builds up in spingolipidoses?

A

ceramide (lipophilic core of sphingolipids)

58
Q

how is PKU inherited

A

autosomal recessive

58
Q

how are most carbohydrate metabolism disorders inherited?

A

AR

60
Q

how is hunter’s inherited

A

x-linked, will only see in males,

62
Q

lab findings for type 2 GSD?

A

high CPK, AST, and LDH.

63
Q

what are people with homocystinuria at increased risk for?

A

thromboembolism

64
Q

how does infantile tay-sachs present?

A

within first few months of life - axial hypotonia, extremity hypertonia, hyperreflexia, 90% have cherry red spot - auditory stimuli can cause seizures first signs are - enhanced startle reflex that does not diminish with repeated stimuli (unlike the moro)

65
Q

what are examples of sphingolipidoses?

A

gaucher, neimann pick, fabry, tay-sachs

67
Q

what is the most common form of inheritance for fatty oxidation disorders?

A

AR

68
Q

what do you see in someone with MPS type 4 (morquio syndrome)

A

short-trunk dwarfism, skeletal dysplasia, odontoid dysplasia, normal intelligence, corneal deposits

69
Q

how does MCAD present?

A

fasting induced lethargy and hypoglycemia, seizures, coma — elevated LFTs and CPK, low glucose

70
Q

what are findings in adrenoleukodystrophy?

A

Developmental regression, progressive leukodystrophy; later onset with demyelination or Addison disease

71
Q
A

Hunter Sydrome

73
Q

how to diagnose MCAD?

A

elevated C8-C10

75
Q

what ammonia levels will cause lethargy, brain edema, vomiting, and confusion

A

100-200

76
Q

what medications can commonly trigger acute intermittent porphyria?

A

phenobarb, sulfonamides, anti-seizure meds, griseofulvin, OCPs

78
Q

what is the defect in type 1 glycogen storage disease (von Gierke)?

A

glucose-6-phosphatase deficiency

79
Q
A

Zellweger syndrome Hepatomegaly, profound hypotonia, Down syndrome–like facies, liver dysfunction

80
Q

what porphyria looks like angioedema after sun exposure?

A

erythropoietic protoporphyria - will have redness, burning, itching after sun exposure, will have elevated levels of protoporphyrin

81
Q

what is the underlying defect in neimann pick type C?

A

problems with routing of cholesterol esters through the lysosome

82
Q

what are the two main differences between hunters and hurlers?

A

hunters - x-linked and no corneal clouding!

83
Q

what is the typical presentation of NPD type C

A

axtaxia and hepatosplenomegaly at age 3-5, organomegaly, cataplexy and narcolepsy are common,

84
Q

what is the treatment for type 5 GSD?

A

glucose before exercise

85
Q

what causes tay-sachs?

A

B-hexsaminidase a-subunit deficiency

86
Q

what disorder consists of epilepsy, cerebellar ataxia, and ragged-red fiber myopathy?

A

MERRF (myoclonic epilepsy and ragged-red fiber disease)

87
Q

how is gaucher type 1 different from types 2 and 3?

A

only one with no CNS involvement

88
Q

what other symptoms do people with MELAS have?

A

cardiomyopathy, diabetes, myopathy, ataxia

89
Q

how can you treat porphyria cutanea tarda?

A

phlebotomy, hydxroychloroquine

90
Q

what is a complication of LCHAD that is not present in VLCAD or MCAD

A

retinopathy and cholestatic liver disease

92
Q

what is the defect with type 2 GSD?

A

acid a-1,4-glucosidase deficiency

93
Q

how do chidlren with methylmalonic acidemia present?

A

high ammonia levels, thrombocytopenia, ketoacidosis (late: vomiting, hyperglycinemia, vomiting, FTT) can lead to renal failure, cardiomyopathy

94
Q

what exam findings are prominent on gaucher type 1?

A

splenomegaly, pale, bone pain

96
Q

what should you think of in a young person with a stroke?

A

MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes)

97
Q

how does type 1 GSD present?

A

seizures, hypoglycemia, hepatomegaly, FTT, enlarged kidneys

98
Q

what disease is caused by deficient uptake of copper?

A

menkes (kinky hair) disease – X-linked

99
Q

workup for fatty oxidation disorders?

A

cbc, cmp, ammonia, CK, lactate, free and acylcarnitine levels,

100
Q

what disease causes self-mutliation by age 2?

A

lesch nyhan disease, x-linked

101
Q

what triad is seen with multiple carboxylase deficiency?

A

alopecia, skin rash, encephalopathy (treat with biotin)

102
Q

how do you treat type 2 GSD?

A

enzyme replacement, high-protein diet

103
Q

what is the enzyme defect in PKU

A

phenylalanine hydroxylase (leads to low tyrosine levels because cant convert phe to tyrosine)

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