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Biochem- disease enzymes > enzyme deficiencies and disease etc > Flashcards

enzyme deficiencies and disease etc Flashcards

1
Q

Hyperammonemia

A

urea cycle enzyme deficiencies or liver disease

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2
Q

ornithine transcarbamoylase deficiency (OTC)

A

OTC deficiency (mos common urea cycle disorder)

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3
Q

phenyketonuria

A

decreased phenylalaniine hydroxylase or THB cofactor

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4
Q

Alkaptonuria

A

(ochronosis) deficiency of homogentisic acid oxidase (–> black urine)

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5
Q

Albinism

A

congenital deficiency of (1) tyrosinase or (2) tyrosine transporters (defective)

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6
Q

Homocystinuria

A

cystathionine synthase deficiency/decreased affinity or homocystein methltransferase (requires B12)

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7
Q

Cystinuria

A

defect in renal tubular amino acid transporter in PCT of kidney

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8
Q

Maple syrup urine disease

A

decreased alpha-ketoacid dehydrogenase (can’t break down branched amino acids ILV)

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9
Q

Hartnup Disease

A

defective neutral amino acid transporter on renal and intestinal epithelial cells (–>tryptophan excretion)

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10
Q

NE–> Epi

A

SAM S-adenosyl-methionine

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11
Q

Dopamine–> NE

A

Vitamin C

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12
Q

Essential fructosuria

A

fructokinase

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13
Q

fructose intolerance

A

aldolase B

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14
Q

galactokinase deficiency

A

galactokinase

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15
Q

classic galactosemia

A

galactose-1-phophate uridyltransferase

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16
Q

FAB GUT

A

Fructose intolerance-aldolase, galactosemia-uridyl transferase

17
Q

glucose–>Sorbitol–>fructose

A

aldose reductase, sorbitol dehydrogenase

18
Q

Pathway produces fresh glucose

A

gluconeogenesis acronym

19
Q

HMP Shunt enzymes

A

G-6-P dehydrogenase (oxidative non reversible), Transketolases (nonoxidative reversible)

20
Q

Chronic granulomatous disease

A

NADPH oxidase

21
Q

Tyrosine makes…

A

catecholamines (dopa, NE, epi)

22
Q

Tryptophan

A

Serotonin, melatonin

23
Q

glutamate makes

A

GABA, glutathione

24
Q

Citrate IS Krebs Starting Substrate For MAkeing Oxaloacetate

A

Kreps cycle acronym

25
Q

Ordinarily Careless Crappers Are Also Frivolous About Urination

A

URea cycle acronym

Biochem- disease enzymes (3 decks)

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