Lipoyltransferase 2 deficiency

Synonym(s)
- Neonatal severe encephalopathy with lactic acidosis and brain abnormalities
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- LIPT2 / Lipoyl(Octanoyl) Transferase 2
  11q13.4
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Lipoyl(octanoyl) transferase 2, mitochondrial
Disease group(s)
- 8.2 Disorders of lipoic acid and iron-sulfur metabolism