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Board Review - A - Rapid Review > Deja Review - Biochemistry II > Flashcards

Deja Review - Biochemistry II Flashcards

1
Q

cataract, mental retard, hepatosplenomegaly, galactitol accumulation

A

galactosemia

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2
Q

galactosemia genetic

A

auto recessive

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3
Q

galactosemia enzyme

A

deficient - galactose - 1-P uridyltransferase

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4
Q

food avoid galacyosemia

A

galactose

lactose

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5
Q

altered mental status
lactic acidosis
increased pyruvate and alanine

A

pyruvate DH deficiency

tx -increased diet fat and ketogenic AAs

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6
Q

ketogenic AAs

A

leucine

lysine

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7
Q

G6PD deficiency genetic

A

X-linked recessive

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8
Q

cystinuria AAs

A

inherited transported of COLA

cystine
ornithine
arginine
lysine

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9
Q

branched chain AAs

A

isoleucine
leucine
valine

Val is loose.

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10
Q

enzyme maple syrup urine disease

A

a-keto acid DH

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11
Q

sup with PKU

A

tyrosine

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12
Q

SCID enzyme

A

adenosine deaminase

purine salvage pathway

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13
Q

lesch nyhan genetic

A

X-linked recessive

deficient - HGPRT

retard, self mutilation, aggression, gout, choreoathetosis

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14
Q

glucose-6 phosphatase deficiency

A

von gierke

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15
Q

deficient lysosomal a-1,4 glucosidase

A

pompe disease

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16
Q

deficient debranching enzyme a-1,6 glucosidase

A

cori disease

17
Q

fabry disease

A

X-linked recessive

deficient a-galactosidase A

18
Q

X-linked recessive lysosomal storage disease

A

hunter

fabry

19
Q

deficient iduronate sulfatase

A

hunter syndrome

20
Q

hunter vs. hurler

A

hunter - should not have clouded cornea or mental retardation

but a hurler does

21
Q

deficient a-iduronidase

A

hurler syndrome

auto recessive

22
Q

accumulation of mucopolysaccharides

A

hunter and hurler syndrome

23
Q

deficient B-glucocerebrosidase

A

gaucher disease

24
Q

deficient hexosaminidase A

A

auto recessive

tay sachs

25
Q

tay sachs genetic

A

auto recessive

26
Q

nieman pick enzyme

A

sphingomyelinase

27
Q

niemann pick genetic

A

auto recessive

28
Q

accumulation of galactocerebroside in brain

A

krabbe disease

29
Q

deficient galactosylceramide B-galactosidase

A

krabbe disease

30
Q

deficient arylsulfatase A

A

metachromic leukodystrophy

31
Q

cheilosis, angular stomatitis, glossitis, seborrheic dermatitis, corneal vascularization

A

deficient B2 - riboflavin

32
Q

adrenal insufficiency vitamine

A

B5

33
Q

nitrosamine

A

smoked food carcinogen

34
Q

calcium oxalate crystals

A

with ethylene glycol poisoning

Board Review - A - Rapid Review (9 decks)

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