Mitochondrial ornithine transporter deficiency

(HHH syndrome)

Synonym(s)
- Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome,
- Ornithine translocase deficiency
Type

Disease
External link(s)
Gene
- SLC25A15 / Solute Carrier Family 25 Member 15
  13q14.11
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Mitochondrial carrier protein
Pathway
- Urea Cycle
Disease group(s)
- 1.1 Urea cycle disorders and inherited hyperammonemias