Pyruvate dehydrogenase complex E3 subunit deficiency

Preferred Label : Pyruvate dehydrogenase complex E3 subunit deficiency;

ICD-11 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.;

ICD-11 synonym : Lipoamide dehydrogenase deficiency; Lipoamide oxidoreductase deficiency; Dihydrolipoamide dehydrogenase deficiency; Diaphorase deficiency; Lactic acidosis due to LAD deficiency; Dihydrolipoyl dehydrogenase deficiency;

Details

Origin ID

1948020523;

Automatic exact mappings (from CISMeF team)
- Dihydrolipoamide dehydrogenase [LOINC component]
- Dihydrolipoamide dehydrogenase deficiency [OMIM Phenotype]
- Dihydrolipoamide dehydrogenase deficiency (disorder) [SNOMED CT concept]
- NADH cytochrome B5 reductase deficiency [MeSH Supplementary Concept]
- cytochrome-b reductase deficiency [SNOMED Notion]
- dihydrolipoamide dehydrogenase [MeSH Descriptor]
- dihydrolipoamide dehydrogenase deficiency [SNOMED Notion]
- lactic acidosis, congenital infantile, due to LAD deficiency [MeSH Supplementary Concept]
- maple syrup urine disease [DO Concept]
Currated CISMeF NLP mapping
- Pyruvate dehydrogenase E3-binding protein deficiency [ORDO Disease]
See also inter- (CISMeF)
- Pyruvate dehydrogenase E3 deficiency [ORDO Disease]

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