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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
homocystinuria error
in methionine metabolism
26
cause of early death in homocytinuria
thromboembolism
27
light colored eyes, skin, hair and unpleasant odor
homocystinuria
28
how to diagnose homocystinuria
homocysteine in urine
29
homocystinuria treatment
diet low in protein, and methionine with betaine, folate and B12 supplements
30
homocystinuria lens
posterior displacement
31
phenylketonuria problem
deficiency of enzyme to convert phenylalanine to tyrosine so phenylalanine accumulates
32
blond hair, blue eyes, normal for first few months but then vomiting, eczema and musty/mousy odor of the urine
PKU
33
PKU screening
only valid after protein feeding (this is why newborn screen is not immediate)
34
phenylketonuria treatment
low phenyalanine formula (lofenalac)
35
essential amino acid intake in phenylketonuria
tyrosine
36
MPS type 1 aka
hurler syndrome
37
lab findings in Hurler syndrome
alpha-L-iduronidase activity in WBCs
38
progressive facial coarsening, hirsutism, hepatosplenomegaly, corneal clouding, thick skull, sever intellectual disability
Hurler syndrome (MPS type 1)
39
MPS type 2 aka
hunter syndrome
40
lab finding in hunter syndrome
iduronate sulfates enzyme activity in WBCs
41
coarse facial features, organomegaly, joint contractors, skin appears pebbly
hunter syndrome (MPS type 2)
42
hunter vs hurler syndrome
hunter is x-linked recessive, short, skeletal abnormalities and does not have corneal clouding
43
cause of infantile gaucher disease
decreased beta glucosidase activity
44
mucopolysaccharidoses
hunter and hurler
45
sphingolipidoses
gaucher, tay Sachs, Riemann-pick
46
hepatosplenomegaly, short stature, bone pain and easy bruisability
gaucher
47
cause of symptoms in gaucher
thrombocytopenia
48
progressive neurologic degeneration over the first year of life with death by age 4 or 5
tay sachs disease
49
cause of tay Sachs disease
deficiency in activity of hexosaminidase A enzyme
50
cherry red spot on retina
tay sachs and niemann-pick disease
51
most common group w/ tay sachs
ashkenazi jews
52
difference between tay sachs and neimann-pick disease
Riemann-pick has heptaosplenomegaly
53
late infancy or early childhood with slowly progressive symptoms
lipid storage disease (gaucher, tay sachs, Niemann-pick)
54
starts when meals are more spread out (ex: sleeping through the night)
glycogen storage disease
55
nonketotic and start after illness or stress
fatty acid oxidation disorders
56
hyper ammonia without acidosis and sometimes with respiratory alkalosis
urea cycle defects
57
progressive neurologic symptoms and myopathy
mitochondrial disease
58
concerning skeletal defect in Hurler syndrome
AA subluxation
59
homozygous children get plantar xanthomas by age 5 and tendons xanthomas between 5 and 15
familial hypercholesterolnemia
60
branched chain amino acids
valine, leucine, isoleucine
61
metabolic disease that can cause subdural hematoma and retinal hemorrhages
glutamic acuduria type 1
62
encephalopathy and smells like sweaty feet
isovaleric acidemia
63
triad of holocarboxylase synthase (biotinidase) deficiency
alopecia, skin rash, encephalopathy
64
type 5 glycogen storage disease aka
mcardle disease (after working out)
65
type 3 glycogen storage disease
sanfilippo syndrome (severe CNS involvement)
66
most common lysosomal storage disease
gaucher
67
teen w/ severe episodic pain that occurs w. heat and they do not sweat
fabry disease
68
impairment of copper uptake
menkes disease
69
self mutilation
lesch-nyhan syndrome

BOARDS (24 decks)

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