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Congenital disorder of metabolism
Diseases relevant to Congenital disorder of metabolism
Isovaleric acidemia
Treated by
Carbaglu
Wilson disease, Hepatolenticular degeneration
Treated by
Nobelzin
Sitosterolemia
Treated by
Zetia
Tyrosinemia
Treated by
Orfadin
Fabry disease, Anderson-Fabry disease
Treated by
Galafold
Replagal
Fabrazyme
Propionic acidemia
Treated by
Carbaglu
Homocystinuria
Treated by
Cystadane
Porphyria
Treated by
Normosang
Methylmalonic aciduria, Methylmalonic acidemia
Treated by
Carbaglu
Secondary hyperammonemia
Treated by
Carbaglu
Hypophosphatasia
Treated by
Strensiq
Systemic primary carnitine deficiency
Treated by
L-Cartin
Cystic fibrosis
Treated by
Pulmozyme
Familial hyperinsulinemic hypoglycemia
Treated by
Aroglycem
Primary hyperammonemic disorders (Urea cycle disorders)
Treated by
Buphenyl
Autosomal dominant hypophosphatemic rickets
Treated by
Crysvita
Neuronal ceroid lipofuscinosis
Treated by
Brineura
Glycogen storage disease type II, Pompe disease
Treated by
Nexviazyme
Myozyme
Hepatic porphyria
Treated by
Givlaari
Lipodystrophy, Lipoatrophy
Treated by
Metreleptin