AMINO ACID METABOLISM DISORDER Flashcards

1
Q

Maple Syrup Urine

Disease (MSUD)

A

Branched Chain Keto-acid

Dehydrogenase

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2
Q

Phenylketonuria

PKU

A

Phenylalanine Hydroxylase

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3
Q

Alkaptonuria

A

Homogentisic Acid Oxidase

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4
Q

Albinism

A

Melanocyte Tyrosinase

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5
Q

Homocystinuria

A

Cystathionine Synthase or

Methionine Synthase

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6
Q

Hyperammonemia

A

Any enzyme in the

Urea Cycle

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7
Q

Hyperammonemia

A

Any enzyme in the

Urea Cycle

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