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Pyruvate dehydrogenase E1-alpha deficiency

Orpha number ORPHA79243
Synonym(s) PDHAD
Pyruvate decarboxylase deficiency
Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
Prevalence Unknown
Inheritance X-linked dominant
Age of onset Infancy
Neonatal
ICD-10
  • E74.4
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.

Prevalence is unknown. Over 200 patients have been reported and while there are approximately equal numbers of males and females, male patients are generally more severely affected.

Patients present with a range of classic signs and symptoms of PDHD, including lactic acidosis, poor feeding, lethargy, tachypnea, developmental delay, growth retardation, poor acquisition or loss of motor milestones, hypotonia, seizures, ataxia and dystonia. Structural brain lesions including cortical atrophy, dilated ventricles, and incomplete corpus callosum, absence of the medullary pyramids and ectopia of the olivary nuclei are commonly observed, especially in female patients heterozygous for the disease-causing mutations that result in complete deficiency of E1-alpha subunit protein in cells expressing the gene mutation.

The disease is caused by deficiency of the E1-alpha subunit of the PDH complex related to mutations in the PDHA1 gene (Xp22.1).

The pattern of inheritance is X-linked.

Expert reviewer(s)

  • Dr Garry BROWN

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