Plasma membrane citrate transporter deficiency

Synonym(s)
- Early infantile epileptic encephalopathy type 25
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- SLC13A5 / Solute Carrier Family 13 Member 5
  17p13.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Sodium-dependent citrate transporter
Pathway
- Pyruvate metabolism and Krebs cycle
Disease group(s)
- 5.2 Disorders of the Krebs cycle