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BOARDS > Inborn Errors of Metabolism > Flashcards

Inborn Errors of Metabolism Flashcards

1
Q

organic aceidemias usually occur after introduction of

A

protein

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2
Q

normal blood gas with elevated ammonia

A

urea cycle defect

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3
Q

definitive diagnosis of fatty acid metabolism defect

A

plasma acylcarnitine profile

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4
Q

fatty acid metabolic defect usually presents when

A

after a benign illness when PO intake was decreased, usually w/ heptaomegaly

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5
Q

urea cycle defect treatment

A

decrease serum ammonia by decreasing protein and giving IV glucose

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6
Q

most important measurement to determine etiology of hypoglycemia in infant

A

urine ketones and urine reducing substances

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7
Q

galactosemia treatment

A

soy based formula

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8
Q

definitive diagnosis fo galactosemia

A

measuring low GALT (galactose-1-phosphate uridyltransferase) in RBC’s

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9
Q

common infections with galactosemia

A

gram negative exL: E. coli

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10
Q

what side effect is reversible with diet change in galactosemia

A

cataracts

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11
Q

hepatosplenomegaly and positive urine reducing substances

A

galactosemia

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12
Q

cause of hypoglycemia in beckwith wiedemann

A

islet cell hyperplasia

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13
Q

treatment for refractory hypoglycemia in infants

A

diazoxide

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14
Q

glycogen storage disease type 1 aka

A

von Gierke disease

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15
Q

hypoglycemia, distended abdomen w/ hepatomegaly, doll-like/cherubic facies, elevated triglycerides and cholesterol, lactic acidosis and elevated uric acid

A

glycogen storage disease type 1 (von gierke)

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16
Q

cause of glycogen storage disease type 1 (von gierke)

A

deficiency of hepatic glucose 6 phosphatase (final step in liver to produce glucose)

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17
Q

glycogen storage disease usually present when

A

once infants start sleeping through the night (fasting)

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18
Q

glycogen storage disease type 1 treatment

A

frequent feeds, continuous glucose at night until 2, then cornstarch before bed

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19
Q

cause of glycogen storage disease type 2 (pompe)

A

deficiency in lysosomal breakdown of glycogen

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20
Q

glycogen storage disease type 2 aka

A

Pompe disease

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21
Q

infant becomes floppy with FTT, develops macroglossia, cardiomegaly and hypotonia though hard muscles

A

glycogen storage disease type 2 (pompe)

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22
Q

classic time of onset for maple syrup urine disease

A

first week of life

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23
Q

which amino acids are elevated in maple syrup urine disease

A 
VIAL
Valine
Isoleucine
Alloisoleucine
Leucine
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24
Q

shallow breathing pattern w/ profound lethargy, irritability, poor PO, hypertonic, ketonuria, musty urine

A

maple syrup urine disease

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25
Q

homocystinuria error

A

in methionine metabolism

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26
Q

cause of early death in homocytinuria

A

thromboembolism

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27
Q

light colored eyes, skin, hair and unpleasant odor

A

homocystinuria

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28
Q

how to diagnose homocystinuria

A

homocysteine in urine

29
Q

homocystinuria treatment

A

diet low in protein, and methionine with betaine, folate and B12 supplements

30
Q

homocystinuria lens

A

posterior displacement

31
Q

phenylketonuria problem

A

deficiency of enzyme to convert phenylalanine to tyrosine so phenylalanine accumulates

32
Q

blond hair, blue eyes, normal for first few months but then vomiting, eczema and musty/mousy odor of the urine

A

PKU

33
Q

PKU screening

A

only valid after protein feeding (this is why newborn screen is not immediate)

34
Q

phenylketonuria treatment

A

low phenyalanine formula (lofenalac)

35
Q

essential amino acid intake in phenylketonuria

A

tyrosine

36
Q

MPS type 1 aka

A

hurler syndrome

37
Q

lab findings in Hurler syndrome

A

alpha-L-iduronidase activity in WBCs

38
Q

progressive facial coarsening, hirsutism, hepatosplenomegaly, corneal clouding, thick skull, sever intellectual disability

A

Hurler syndrome (MPS type 1)

39
Q

MPS type 2 aka

A

hunter syndrome

40
Q

lab finding in hunter syndrome

A

iduronate sulfates enzyme activity in WBCs

41
Q

coarse facial features, organomegaly, joint contractors, skin appears pebbly

A

hunter syndrome (MPS type 2)

42
Q

hunter vs hurler syndrome

A

hunter is x-linked recessive, short, skeletal abnormalities and does not have corneal clouding

43
Q

cause of infantile gaucher disease

A

decreased beta glucosidase activity

44
Q

mucopolysaccharidoses

A

hunter and hurler

45
Q

sphingolipidoses

A

gaucher, tay Sachs, Riemann-pick

46
Q

hepatosplenomegaly, short stature, bone pain and easy bruisability

A

gaucher

47
Q

cause of symptoms in gaucher

A

thrombocytopenia

48
Q

progressive neurologic degeneration over the first year of life with death by age 4 or 5

A

tay sachs disease

49
Q

cause of tay Sachs disease

A

deficiency in activity of hexosaminidase A enzyme

50
Q

cherry red spot on retina

A

tay sachs and niemann-pick disease

51
Q

most common group w/ tay sachs

A

ashkenazi jews

52
Q

difference between tay sachs and neimann-pick disease

A

Riemann-pick has heptaosplenomegaly

53
Q

late infancy or early childhood with slowly progressive symptoms

A

lipid storage disease (gaucher, tay sachs, Niemann-pick)

54
Q

starts when meals are more spread out (ex: sleeping through the night)

A

glycogen storage disease

55
Q

nonketotic and start after illness or stress

A

fatty acid oxidation disorders

56
Q

hyper ammonia without acidosis and sometimes with respiratory alkalosis

A

urea cycle defects

57
Q

progressive neurologic symptoms and myopathy

A

mitochondrial disease

58
Q

concerning skeletal defect in Hurler syndrome

A

AA subluxation

59
Q

homozygous children get plantar xanthomas by age 5 and tendons xanthomas between 5 and 15

A

familial hypercholesterolnemia

60
Q

branched chain amino acids

A

valine, leucine, isoleucine

61
Q

metabolic disease that can cause subdural hematoma and retinal hemorrhages

A

glutamic acuduria type 1

62
Q

encephalopathy and smells like sweaty feet

A

isovaleric acidemia

63
Q

triad of holocarboxylase synthase (biotinidase) deficiency

A

alopecia, skin rash, encephalopathy

64
Q

type 5 glycogen storage disease aka

A

mcardle disease (after working out)

65
Q

type 3 glycogen storage disease

A

sanfilippo syndrome (severe CNS involvement)

66
Q

most common lysosomal storage disease

A

gaucher

67
Q

teen w/ severe episodic pain that occurs w. heat and they do not sweat

A

fabry disease

68
Q

impairment of copper uptake

A

menkes disease

69
Q

self mutilation

A

lesch-nyhan syndrome

BOARDS (24 decks)

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