Pyruvate dehydrogenase e2 deficiency

Preferred Label : Pyruvate dehydrogenase e2 deficiency;

Symbol : PDHDD;

CISMeF acronym : PDHDD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lactic acidemia due to defect of e2 lipoyl transacetylase of the pyruvate dehydrogenase complex;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dihydrolipoamide acetyltransferase gene (DLAT, 608770.0001);

Laboratory abnormalities : Decreased levels of the E2 subunit protein; Serum and CSF lactate may be increased; Decreased activity of the E2 subunit (lipoyl transacetylase, 608770) of the PDH; Decreased activity of the pyruvate dehydrogenase complex (PDH);

Prefixed ID : #245348;

Details

Origin ID

245348;

UMLS CUI

C1855565;

Broader ORDO disease(s)
- Pyruvate dehydrogenase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Pyruvate dehydrogenase E2 deficiency [ORDO Disease]
- Pyruvate dehydrogenase complex E2 subunit deficiency [ICD-11 More detail]
- Pyruvate dehydrogenase complex E2 subunit deficiency (disorder) [SNOMED CT concept]
- pyruvate dehydrogenase E2 deficiency [MeSH concept]
- pyruvate dehydrogenase E2 deficiency [MeSH Supplementary Concept]
DO Cross reference
- pyruvate decarboxylase deficiency [DO Concept]
Genes related to phenotype
- Dihydrolipoamide s-acetyltransferase [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Choreoathetosis [HPO term]
- Decreased activity of the pyruvate dehydrogenase complex [HPO term]
- Delayed gross motor development [HPO term]
- Drooling [HPO term]
- Dystonia, episodic [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, mild [HPO term]
- Jerky head movements [HPO term]
- Lactic acidosis [HPO term]
- Microcephaly [HPO term]
- Mild lactic acidosis [HPO term]
- Neonatal hypotonia [HPO term]
- Nystagmus [HPO term]
- Oculomotor apraxia [HPO term]
- Paroxysmal dystonia [HPO term]
- Poor speech [HPO term]
- Psychomotor retardation [HPO term]
- Ptosis [HPO term]
ORDO concept(s)
- Pyruvate dehydrogenase E2 deficiency [ORDO Disease]
- Pyruvate dehydrogenase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pyruvate dehydrogenase E2 deficiency [ORDO Disease]
- pyruvate dehydrogenase E2 deficiency [MeSH Supplementary Concept]
- pyruvate dehydrogenase E2 deficiency [MeSH concept]

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