6-pyruvoyl-tetrahydropterin synthase deficiency

Synonym(s)
- PTS-related atypical phenylketonuria
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PTS / Phenylalanine Hydroxylase Tetrahydrobiopterin Synthase
  11q23.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- 6-pyruvoyl-tetrahydropterin synthase
Disease group(s)
- 21.1 Disorders of tetrahydrobiopterin metabolism