IEM Flashcards

1
Q

Phenylketonuria

A

Phenylalanine hydroxylase

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2
Q

MSUD

A

Branched-chain alpha-keto acid dehydrogenase

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3
Q

Albinism

A

Tyrosinase

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4
Q

Homocystinuria

A

Cystathione beta-synthase

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5
Q

Alkaptonuria

A

Homogenistic acid oxidase

arthralgia

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6
Q

Cystinuria

A

cystine, ornithine, lysine, arginine

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7
Q

Lesch-Nyhan syndrome

A

HGPRT

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