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All Diseases > Pterin-4a-Carbinolamine Dehydratase Deficiency
Pterin-4a-Carbinolamine Dehydratase Deficiency (PCD deficiency)
Alternative Names: PCD deficiency
Disease Category: Phenylketonuria
A genetic disorder causing high blood levels of the amino acid phenylalanine. When left untreated, symptoms include decreased muscle tone, irritability, and delays in motor development. Neurological development is normal with dietary control of blood phenyalanine.