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BIOCHEMISTRY Q1 > Diseases - Enzyme Deficiencies > Flashcards

Diseases - Enzyme Deficiencies Flashcards

1
Q

BCKDH (cofactors B1, B3, B5) + BCAA

A

MSUD (enzyme + AA)

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2
Q

Glycine cleavage system (B3, B9) + glycine

A

Non ketotic hyperglycinemia (enzyme + AA

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3
Q

Glutaric Acidura Type I (amino acid)

A

Tryptophan

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4
Q

Non-ketotic hyperglycinemia (amino acid)

A

Glycine

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5
Q

A-ketoacidipic dehydrogenase + tryptophan

A

A-ketoacidpic acidura (enzyme + AA)

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6
Q

Arginase (elevated arginine)

A

Hyperarginemia (enzyme + metabolite)

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7
Q

Methylmalanonic CoA mutase (B12, MET donors) + threonine

A

Methylmalonic academia (enzyme + AA)

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8
Q

Arginiosuccinase or arginiosuccinate lyase (elevated arginiosuccinate)

A

Argininosuccinicaciduria (enzyme + metabolite)

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9
Q

Argininosuccinate synthetase (excess citrulline excretion)

A

Citrullemia (enzyme + metabolite)

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10
Q

Phosphoserine phosphatase + serine

A

William Beuren Syndrome (WBS) (enzyme + AA)

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11
Q

a-ketoacidipic aciduria (amino acid)

A

Tryptophan

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12
Q

Carbamoyl phosphate synthase (elevated ammonia)

A

Hyperammonemia Type I (enzyme + metabolite)

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13
Q

Tyrosinemia (Type II) - Richer-Hanhart + tyrosine

A

Tyrosine transaminase (disease + AA)

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14
Q

Propionyl CoA carboxylase (B7, MET donors) + threonine

A

Propionic academia (enzyme + AA)

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15
Q

Histidase + histidine

A

Histidemia (enzyme + AA)

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16
Q

Neonatal tyrosinemia + tyrosine

A

P-hydroxyphenylpyruvate hydrooxylase (disease + AA)

17
Q

Homgentisate oxidase + tyrosine

A

Alkaptonuria (enzyme + AA)

18
Q

Tyrosinemia (Type I) + tyrosine

A

Fumarylacetoacetate hydroxylase (disease + AA)

19
Q

Ornithine transcarbamoylase (elevated glutamine)

A

Hyperammonia Type II (enzyme + metabolite)

20
Q

Cystathionine B synthase + methionine

A

Homocystinuria (enzyme + AA)

21
Q

Glutaryl CoA dehydrogenase + tryptophan

A

Glutamic Acidura Type I (enzyme + AA)

BIOCHEMISTRY Q1 (11 decks)

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