84-92 METABOLIC DISORDER Flashcards

1
Q

Accumulation of phenylalanine

A

Phenylketonuria

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2
Q

Phenylketonuria: deficiency of enzyme

A

Phenylalanine hydroxylase & cofactor tetrahydrobiopterin

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3
Q

Musty or mousey odor

A

Phenylketonuria

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4
Q

Treatment of PHENYLKETONURIA

A

Diet restriction: Low phenylalanine diet

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