Lipoic acid synthase deficiency

(NELABA)

Synonym(s)
- Neonatal encephalopathy with lactic acidosis and brain abnormalities,
- Hyperglycinemia, lactic acidosis, and seizures
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- LIAS / Lipoic Acid Synthetase
  4p14
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Lipoic acid synthetase
Disease group(s)
- 8.2 Disorders of lipoic acid and iron-sulfur metabolism