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Pyruvate dehydrogenase E2 deficiency
Disease definition
A very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.
ORPHA:79244
Classification level: Subtype of disorder- Synonym(s):
- 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
- ICD-11: 5C53.02
- OMIM: 245348
- UMLS: C1855565
- MeSH: -
- GARD: -
- MedDRA: -
Summary
Epidemiology
Prevalence is unknown. Only 4 cases have been reported to date.
Clinical description
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.
Etiology
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.
Genetic counseling
The pattern of inheritance is autosomal recessive.
A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012) Português (2012) Polski (2012, pdf)
Detailed information
General public
- Article for general public
- Svenska (2014) - Socialstyrelsen
Disease review articles
- Clinical genetics review
- English (2021) - GeneReviews
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)Additional information