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Peds Clerkship > FEN + IEM > Flashcards

FEN + IEM Flashcards

1
Q

B2 (riboflavin) deficiency?

A

cheilosis (dried cracks along corners of lips), corneal vascularization

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2
Q

B3 (niacin) deficiency?

A

pellagra (diarrhea, dermatitis, dementia)

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3
Q

Vitamin B6 (pyridoxine) deficiency?

A

peripheral neuropathy, seizures, sideroblastic anemia; found in INH usage

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4
Q

B7 (biotin) deficiency?

A

seborrheic dermatitis, enteritis, alopecia

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5
Q

B9 (folate) deficiency?

A

megaloblastic anemia w/o neuro sx, neural tube defects

**babies fed goat milk

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6
Q

B12 (cobalamin) deficiency?

A

megaloblastic anemia w/ neuro sx

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7
Q

Vitamin E deficiency? Excess?

A

hemolytic anemia

hemorrhagic diathesis

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8
Q

Zinc deficiency?

A

acrodermatitis enteropathica (erythematous desquamating rash on hands/feet, scalp, buttocks, mouth)

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9
Q

Selenium deficiency?

A

CHF

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10
Q

Dx PKU?

A

Guthrie test

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11
Q

s/s Biotinidase deficiency?

A

seborrheic dermatitis, enteritis, alopecia

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12
Q

Tyrosinemia:
defect?
s/s?
tx?

A

AR ∆fumarylaceto- acetate hydrolase

failure to thrive, hepatomegaly, liver failure

nitisinone (enzyme that helps bypass metabolite accumulation)

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13
Q

AR ∆acid maltase =

A

Pompe disease

FTT, hypoglycemia, cardiomegaly

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14
Q

Lysosomal storage diseases:
dx?
tx?

A

Dx = urinary mucopolysaccharides

tx = BM transplant, enzyme replacement

(coarse facial features, HSM, joint contractures, MR, etc.)

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15
Q

Niemann Pick vs Tay-Sachs?

A

Niemann-pick disease: AR ∆sphingomyelinase
“cherry-red macula” w/ HSM

Tay-Sachs disease: AR ∆hexosaminidase A
“cherry-red macula” w/o HSM, exaggerated startle response (hyperacusis)

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16
Q

OCT deficiency tx?

A

Tx arginine, benzoic acid, or phenylacetate to get rid of ammonia

17
Q

urine that turns brown/black on air exposure, adult- onset arthritis =

A

Alkaptonuria

18
Q

Homocystinuria: tx?

A

vitamin B6 + cysteine

19
Q

Medium-chain acyl-CoA deficiency (MCADD):
s/s?
tx?

A

hypoketotic hypoglycemia w/o acidosis (can’t break down FA for energy)

L-carnitine + avoid prolonged fasting

Peds Clerkship (13 decks)

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