#pterin-4_alpha-carbinolamine_dehydratase_deficiency
Pterin-4 alpha-carbinolamine dehydratase deficiency
Pterin-4 alpha-carbinolamine dehydratase deficiency (PCDD) is one of the known forms of tetrahydrobiopterin deficiency. This condition is associated with mutations of the PCBD1 gene. As of 2020, PCDD was the rarest form of BH4 deficiency in terms of cases described in medical literature.
Sun 3rd
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