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Pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1) deficiency 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 development is normal with dietary control of blood phenyalanine. PCBD1 is inherited in an autosomal recessive manner.
Features include always present findings: Elevated urinary 7-biopterin level; and very common findings: Hyperphenylalaninemia and Abnormal circulating biopterin concentration. 17 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 4 | Tremor, Irritability, Parkinsonism |
Muscles | 2 | Generalized hypotonia, Axial hypotonia |
Kidneys and urinary system | 1 | Elevated urinary 7-biopterin level |
Hormones | 1 | Maturity-onset diabetes of the young |
PCBD1 function has not been fully characterized.
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency is caused by mutations in the PCBD1 gene on chromosome 10.
Genetic testing for PCBD1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature, 2 very common features, 2 common features.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for pterin-4 alpha-carbinolamine dehydratase 1 deficiency.
1 publication has been identified in PubMed for pterin-4 alpha-carbinolamine dehydratase 1 deficiency. Research spans Clinical Trial Publication (100%).
Muntau AC (2024). [PMID: 39368841](https://pubmed.ncbi.nlm.nih.gov/39368841/). *Lancet*. [Clinical Trial Publication]
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 6:57 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center