Hyperphenylalaninemia due to dehydratase deficiency
Alternate names[edit | edit source]
Dehydratase deficiency; Hyperphenylalaninemia with Primapterinuria; Hyperphenylalaninemia, BH4-deficient, D; Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency; CADH deficiency; PCBD deficiency; Pterin-4 alpha-carbinolamine dehydratase deficiency; Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency; Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency
Definition[edit | edit source]
Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner.
NIH genetic and rare disease info[edit source]
Hyperphenylalaninemia due to dehydratase deficiency is a rare disease.
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