GTP cyclohydrolase 1 deficiency

Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- GCH1 / GTP Cyclohydrolase 1
  14q22.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- GTP cyclohydrolase 1
Disease group(s)
- 21.1 Disorders of tetrahydrobiopterin metabolism