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Pyruvate dehydrogenase E3-binding protein deficiency
Disease definition
Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.
ORPHA:255182
Classification level: Subtype of disorder- Synonym(s):
- 2-oxoglutarate complex deficiency
- Branched chain alpha-ketoacid dehydrogenase complex deficiency
- Diaphorase deficiency
- Dihydrolipoyl dehydrogenase deficiency
- Glycine cleavage system L protein deficiency
- Lipoamide dehydrogenase deficiency
- Pyruvate dehydrogenase complex component E3 deficiency
- Pyruvate dehydrogenase protein X component deficiency
- Prevalence: Unknown
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: E74.4
- OMIM: 245349
- UMLS: C1855553
- MeSH: -
- GARD: -
- MedDRA: -
Summary
Epidemiology
Prevalence is unknown. About 20 cases have been reported to date. The disorder is more frequent than PDHD E2 deficiency but less frequent than E1-alpha deficiency (see these terms).
Clinical description
Patients usually present with neonatal lactic acidosis or with delayed development and hypotonia during infancy. In contrast to other forms of pyruvate dehydrogenase deficiency, patients with E3 binding protein deficiency often survive well into childhood or adult life as there is some assembly of the pyruvate dehydrogenase complex even with complete deficiency of this protein. Thinning or agenesis of the corpus callosum is a common finding on MRI imaging of the brain.
Etiology
PDHD E3 binding protein deficiency is caused by a mutation in the PDHX gene (11p13) encoding the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex.
Genetic counseling
The pattern of inheritance is autosomal recessive.
Detailed information
Article for general public
Professionals
- Clinical genetics review
- English (2021)
Additional information