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Step 1 stuff > Metabolism disorders > Flashcards

Metabolism disorders Flashcards

1
Q

1000X increase of developing skin CA

A

xeroderma pigmentosa

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2
Q

alcoholics leading to B1 deficiency leading to neurologic defects

A

pyruvate dehydrogenase deficiency

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3
Q

abnormal collagen type I synthesis

A

osteogenesis imperfecta

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4
Q

absence of HGPRTase

A

Lesch-Nyhan syndrome

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5
Q

deficiency of aldolase B

A

fructose intolerance

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6
Q

defective excision repair leading to thymidine dimer formation

A

xeroderma pigmentosa

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7
Q

deficiency of cystathionine synthase

A

homocysteinuria

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8
Q

Heinz bodies

A

G6PD deficiency

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9
Q

musty/mousy odor, albinism, MR, eczema

A

PKU

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10
Q

galactose-1P uridyltransferase deficiency, leading to mental retardation, hepatosplenomegaly, cataracts

A

galactosemia

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11
Q

Rx: no Nutrasweet, increased dietary tyrosine

A

PKU

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12
Q

deficiency of tyrosinase

A

albinism

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13
Q

hyperextensible skin, loose joints, bleeding tendency

A

Ehler’s Danlos

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14
Q

Decreased NADPH due to lack of HMP enzyme

A

G6PD deficiency

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15
Q

inherited defect in tubular amino acid transporter

A

cysteinuria

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16
Q

Treat with decreased dietary methionine, increased cystine and B6

A

homocysteinuria

17
Q

deficiency in homogentisic acid oxidase

A

alkaptonuria

18
Q

hypoglycemia and jaundice and cirrhosis

A

fructose intolerance

19
Q

self-mutilation, gout, aggression, choreoathetosis

A

Lesch-Nyhan syndrome

20
Q

Blocked degradation of branched chain amino acids

A

Maple Syrup Urine Disease

21
Q

Bloating, cramps, osmotic diarrhea

A

Lactose intolerance

22
Q

Treat with acetazolamide to alkalinize urine

A

cysteinuria

23
Q

deficiency results in a combined B and T cell deficiency

A

adenosine deaminase deficiency

24
Q

treat with decreased fructose and sucrose intake

A

fructose intolerance

25
Q

treat with increased intake of ketogenic nutrients (fats)

A

pyruvate dehydrogenase deficiency

26
Q

dark brown urine, organs, and connective tissue; benign

A

alkaptonuria

27
Q

multiple fractures and blue sclera

A

osteogenesis imperfecta

28
Q

treat by excludin galactose and lactose from diet

A

galactosemia

Step 1 stuff (36 decks)

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