Details of Disease | DrugMAP

General Information of Disease (ID: DISITN4E)

Disease Name	Pyruvate dehydrogenase E2 deficiency
Synonyms	PDHDD; lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase Complex; dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; pyruvate dehydrogenase E2 deficiency; dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; pyruvate dehydrogenase complex component E2 deficiency
Definition	Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.
Disease Hierarchy	DIS8RZP9: Pyruvate dehydrogenase complex deficiency DISITN4E: Pyruvate dehydrogenase E2 deficiency
Disease Identifiers	MONDO ID MONDO_0009502 MESH ID C565448 UMLS CUI C1855565 OMIM ID 245348 MedGen ID 343386 Orphanet ID 79244

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DLAT	OT9LBJVN	Definitive	Autosomal recessive	[1]
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References

1	Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency. Ann Neurol. 2005 Aug;58(2):234-41. doi: 10.1002/ana.20550.