Details of Disease | DrugMAP

General Information of Disease (ID: DISE8B3S)

Disease Name	Pyruvate dehydrogenase E3 deficiency
Synonyms	E3 deficiency; lipoamide dehydrogenase deficiency, lactic acidosis due to; Dld deficiency; maple syrup urine disease, type 3; maple syrup urine disease, type III; DLDD; DLD deficiency; pyruvate dehydrogenase E3 deficiency; dihydrolipoamide dehydrogenase deficiency; E3-deficient maple syrup urine disease
Definition	Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.
Disease Hierarchy	DIS8RZP9: Pyruvate dehydrogenase complex deficiency DIS61XRH: Maple syrup urine disease DIS5L41Q: Inherited lipoic acid biosynthesis defect DISE8B3S: Pyruvate dehydrogenase E3 deficiency
Disease Identifiers	MONDO ID MONDO_0009529 UMLS CUI C5574660 OMIM ID 246900 MedGen ID 1805500 Orphanet ID 2394 SNOMED CT ID 29914000

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
DLD	OT378CU9	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.