Imp error of metabolisms and treatment
Alkaptoneuria-vit c, nitisinone
Homocystinuria-pyridoxine + folic acid
Cysteinuria-alkalization of urine, d-penicillamine, captopril
Hurtnup dis-nicotinamide
Multiple carboxylase def -biotin
Methyl malonic acidemia-vit b12
hyperoxaluria-pyridoxine
tyrosinemia-NTBC, liver transplantation
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