Sepiapterin reductase deficiency

Synonym(s)
- SPR-related atypical phenylketonuria
Type

Disease
External link(s)
- IEMbase
Gene
- SPR / Sepiapterin Reductase
  2p13.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Sepiapterin reductase
Disease group(s)
- 21.1 Disorders of tetrahydrobiopterin metabolism