Details of Disease

General Information of Disease (ID: DIS2EAEZ)

• Disease Name: Lipoic acid synthetase deficiency
• Synonyms: PDHLD; pyruvate dehydrogenase lipoic acid synthetase deficiency; HGCLAS; hyperglycinemia, lactic acidosis, and seizures
• Definition: Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person.
• Disease Hierarchy:
  DIS8RZP9: Pyruvate dehydrogenase complex deficiency
  DIS5L41Q: Inherited lipoic acid biosynthesis defect
  DIS2EAEZ: Lipoic acid synthetase deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0013762
  UMLS CUI: C3280887
  OMIM ID: 614462
  MedGen ID: 482517
  Orphanet ID: 401859

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LIAS	OTOSW67J	Strong	Autosomal recessive	[1]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.