Details of Disease

General Information of Disease (ID: DISZ6WMJ)

• Disease Name: Pyruvate dehydrogenase E1-alpha deficiency
• Synonyms: ataxia with lactic acidosis 1; lactic acidemia, thiamine-responsive; ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency; PDH deficiency; ataxia, intermittent, with abnormal pyruvate metabolism; pyruvate dehydrogenase E1-ALPHA deficiency; pyruvate dehydrogenase Complex deficiency; ataxia, intermittent, with pyruvate dehydrogenase deficiency; pyruvate decarboxylase deficiency; PDHAD; pyruvate dehydrogenase e1-alpha deficiency, X-linked dominant; pyruvate dehydrogenase complex E1 component subunit alpha deficiency; pyruvate dehydrogenase E1-alpha deficiency
• Definition: Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.
• Disease Hierarchy:
  DIS8RZP9: Pyruvate dehydrogenase complex deficiency
  DISZ6WMJ: Pyruvate dehydrogenase E1-alpha deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0010717
  MESH ID: C564071
  UMLS CUI: C1839413
  MedGen ID: 326486
  Orphanet ID: 79243

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
LONP1	TTM1VPZ	Supportive	X-linked	[1]
LONP1	TTM1VPZ	Strong	GermlineCausalMutation	[1]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DLST	OTBDF9HJ	No Known	Autosomal recessive	[2]
LONP1	OT665WYT	Supportive	X-linked	[1]
PDHA1	OTGEU8IK	Definitive	X-linked	[3]

References

• [1] Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy. Hum Mol Genet. 2019 Jan 15;28(2):290-306. doi: 10.1093/hmg/ddy351.
• [2] Loss of dihydrolipoyl succinyltransferase (DLST) leads to reduced resting heart rate in the zebrafish. Basic Res Cardiol. 2015 Mar;110(2):14. doi: 10.1007/s00395-015-0468-7. Epub 2015 Feb 20.
• [3] Pyruvate dehydrogenase E1 alpha deficiency in a family: different clinical presentation in two siblings. J Inherit Metab Dis. 1998 Jun;21(3):224-6. doi: 10.1023/a:1005347501111.