Mitochondrial aconitase deficiency

Synonym(s)
- Infantile cerebellar-retinal degeneration
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- ACO2 / Aconitase 2, Mitochondrial
  22q13.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Aconitase 2, mitochondrial
Pathway
- Pyruvate metabolism and Krebs cycle
Disease group(s)
- 5.2 Disorders of the Krebs cycle