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Dehydratase deficiency
Disease definition
Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), 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.
ORPHA:1578
- Synonym(s):
- CADH deficiency
- Hyperphenylalaninemia due to dehydratase deficiency
- Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
- Hyperphenylalaninemia with primapterinuria
- PCBD deficiency
- Prevalence: Unknown
- Inheritance: Autosomal recessive
- Age of onset: Neonatal
- ICD-10: E70.1
- OMIM: 264070
- UMLS: C1849700
- MeSH: -
- GARD: 2843
- MedDRA: -
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