Categories: BiochemistryFlash Card

General Features Of Disorders Of Aminoacid Metabolism – Aminoacids – Biochemistry

Cabbage or rancid butter smell?
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Tyrosinemia

Tyrosinemia?
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Fumaryl acetoacetate hydrolase

Cystinuria is characterized by?
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Recurrent urinary calculi

Does NOT predispose to malignancy?
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Cystinuria

Cystinuria is detected by?
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Urine sodium nitroprusside test

Mental retardation is associated with?
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Homocystinuria

Homocystinuria?
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Hawkinsuria?
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Autosomal dominant

Boiled cabbage odour?
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Tyrosinemia type I

Treatment of tyrosinemia type I?
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Nitisinone
DaVinci

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DaVinci
3 years ago

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