Details of Disease | DrugMAP

General Information of Disease (ID: DISXRU5D)

Disease Name	Pyruvate dehydrogenase E3-binding protein deficiency
Synonyms	lactic acidemia due to defect in lipoyl-containing component 10 of the pyruvate dehydrogenase Complex; pyruvate dehydrogenase E3-binding PROTEIN deficiency; PDHXD; 2-oxoglutarate complex deficiency; pyruvate dehydrogenase protein X component deficiency; Glycine cleavage system L protein deficiency; lipoamide dehydrogenase deficiency; pyruvate dehydrogenase E3-binding protein deficiency; lacticacidemia due to PDX1 deficiency; pyruvate dehydrogenase complex component E3 deficiency; branched chain alpha-ketoacid dehydrogenase complex deficiency; dihydrolipoyl dehydrogenase deficiency; diaphorase deficiency
Definition	Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction.
Disease Hierarchy	DIS8RZP9: Pyruvate dehydrogenase complex deficiency DISXRU5D: Pyruvate dehydrogenase E3-binding protein deficiency
Disease Identifiers	MONDO ID MONDO_0009503 MESH ID C565447 UMLS CUI C1855553 OMIM ID 245349 MedGen ID 343383 Orphanet ID 255182

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
PDHX	OTG7O271	Definitive	Autosomal recessive	[1]
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References

1	Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency. Hum Mol Genet. 1998 Mar;7(3):501-5. doi: 10.1093/hmg/7.3.501.