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ENHyperphenylalaninemia, Bh4-Deficient, D (HPABH4D)
Alias:
Hyperphenylalaninemia with Primapterinuria
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hyperphenylalaninemia Due to Dehydratase Deficiency
Hyperphenylalaninemia Due to Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency
Cadh Deficiency
Pcbd Deficiency
Hpabh4d
Tetrahydrobiopterin -Deficient Hyperphenylalaninemia Due to Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency
Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due to Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency
Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due to Phs Deficiency
Pterin-4 Alpha-Carbinolamine Dehydratase 1 Deficiency
Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency
Hyperphenylalaninemia, Bh4-Deficient, Type D
Bh4-Deficient Hyperphenylalaninemia D
Phs Deficiency
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Hyperphenylalaninemia, Bh4-Deficient, D, also known as hyperphenylalaninemia with primapterinuria, is related to hyperphenylalaninemia, bh4-deficient, a. An important gene associated with Hyperphenylalaninemia, Bh4-Deficient, D is PCBD1 (Pterin-4 Alpha-Carbinolamine Dehydratase 1). Related phenotypes are hyperphenylalaninemia and abnormal circulating biopterin concentration
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