pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Findings
No curated finding names pterin-4 alpha-carbinolamine dehydratase 1 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009908), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated urinary 7-biopterin levelHPOHP:0033594
- 13 of 13 reported patients
- Abnormal circulating biopterin concentrationHPOHP:0040210
- Very frequent (80% to 99% of cases)
- HyperphenylalaninemiaHPOHP:0004923
- Very frequent (80% to 99% of cases)
- Abnormal circulating neopterin concentrationHPOHP:0040206
- Frequent (30% to 79% of cases)
- Oculogyric crisisHPOHP:0010553
- Frequent (30% to 79% of cases)
- Axial hypotonia
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PCBD1HGNC:8646
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
9 names
Resolves to: pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- Also called
- CADH deficiencydehydratase deficiencyhyperphenylalaninemia due to dehydratase deficiencyhyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiencyhyperphenylalaninemia with primapterinuriahyperphenylalaninemia, Bh4-deficient, type DPCBD deficiencyPCBD1 deficiencyPCD deficiency