Pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1) deficiency is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, characterized by muscular hypoto...
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Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 1 company has orphan drug designations for this disease
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