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Pyruvate dehydrogenase E2 deficiency
A very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.
ORPHA:79244Classification level: Subtype of disorder
- Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency
- Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency
- Pyruvate dehydrogenase complex component E2 deficiency
- Prevalence: Unknown
- Inheritance: Autosomal recessive
- Age of onset: Childhood
- ICD-10: E74.4
- OMIM: 245348
- UMLS: C1855565
- MeSH: -
- GARD: -
- MedDRA: -
Prevalence is unknown. Only 4 cases have been reported to date.
Patients with E2 deficiency generally present later in childhood with movement disorders and lesions in the globus pallidus similar to those found in patients with pantothenate kinase-associated neurodegeneration (see this term). Other signs include general hypotonia and delayed psychomotor development. Lactate concentration may be normal in both blood and cerebrospinal fluid.
The condition is caused by mutations in the DLATgene (11q23.1) encoding the dihydrolipoamide acetyl transferase E2 subunit of the PDH complex. Parental consanguinity is commonly reported.
The pattern of inheritance is autosomal recessive.
Article for general public
- Summary information
- Polski (2012, pdf)