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Pyruvate dehydrogenase E3 deficiency
rarePyruvate 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.
- Identifiers
- MONDO:0009529 OMIM:246900Orphanet:2394
- Causal genes
- DLD
- Part of
- Inherited lipoic acid biosynthesis defectMaple syrup urine diseasePyruvate dehydrogenase deficiency
- Also known as
- dihydrolipoamide dehydrogenase deficiency · DLD deficiency · DLDD · E3-deficient maple syrup urine disease · maple syrup urine disease, type III
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