Mitochondrial citrate carrier deficiency

Synonym(s)
- Combined D-2- and L-2-hydroxyglutaric aciduria
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- SLC25A1 / solute carrier family 25 member 1
  22q11.21
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Mitochondrial citrate carrier protein
Disease group(s)
- 11.1 Disorders of mitochondrial shuttles and carriers