Transketolase deficiency

Synonym(s)
- Short stature, developmental delay, and congenital heart defects
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- TKT / Transketolase
  3p21.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Transketolase
Pathway
- Pentose metabolism
Disease group(s)
- 3.5 Disorders of pentose phosphate metabolism