Thiamine pyrophosphokinase deficiency

Synonym(s)
- Thiamine metabolism dysfunction syndrome type 5
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- TPK1 / Thymidine Phosphorylase
  7q35
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Thymidine phosphorylase
Disease group(s)
- 21.2 Disorders of thiamine metabolism