Pterin-4-alpha-carbinolamine dehydratase deficiency

Synonym(s)
- Primapterinuria
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PCBD1 / Pterin-4 Alpha-Carbinolamine Dehydratase 1
  10q22.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Pterin-4 alpha-carbinolamine dehydratase
Disease group(s)
- 21.1 Disorders of tetrahydrobiopterin metabolism
Child entries
- PCBD1-related MODY