Cabbage or rancid butter smell?
Tyrosinemia
Tyrosinemia?
Fumaryl acetoacetate hydrolase
Cystinuria is characterized by?
Recurrent urinary calculi
Does NOT predispose to malignancy?
Cystinuria
Cystinuria is detected by?
Urine sodium nitroprusside test
Mental retardation is associated with?
Homocystinuria
Homocystinuria?
Hawkinsuria?
Autosomal dominant
Boiled cabbage odour?
Tyrosinemia type I
Treatment of tyrosinemia type I?
Nitisinone