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Pyruvate Dehydrogenase E3-Binding Protein Deficiency (MONDO:0009503)

Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction.

Overview

Category

nervous system disorder

Ontology ID

MONDO:0009503

Internal:10728

Synonyms

2-oxoglutarate complex deficiency

Glycine cleavage system L protein deficiency

branched chain alpha-ketoacid dehydrogenase complex deficiency

diaphorase deficiency

dihydrolipoyl dehydrogenase deficiency

lacticacidemia due to PDX1 deficiency

lipoamide dehydrogenase deficiency

pyruvate dehydrogenase E3-binding protein deficiency

pyruvate dehydrogenase complex component E3 deficiency

pyruvate dehydrogenase protein X component deficiency

PDHXD

lactic acidemia due to defect in lipoyl-containing component 10 of the pyruvate dehydrogenase Complex

pyruvate dehydrogenase E3-binding PROTEIN deficiency

Mapped terms

GARD:0017237

MEDGEN:343383

MESH:C565447

OMIM:245349

Orphanet:255182

UMLS:C1855553

Child terms

Unknown children.

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