Pyruvate dehydrogenase deficiency presenting as dystonia in childhood.

Abstract

Two individuals with pyruvate dehydrogenase (PDH) deficiency due to missense mutations in the gene for the E1alpha subunit (PDHA1) presented during childhood with dystonia. The first patient, a male, presented at age 4 years with dystonia affecting the lower limbs, which responded to treatment with combined carbidopa and levodopa. The second patient, a female, was first investigated at age 6 years because of a dystonic gait disorder. In both patients, the main clue to the biochemical diagnosis was a raised concentration of lactate in the cerebrospinal fluid. PDH activity was significantly reduced in cultured fibroblasts in both cases. Dystonia is a previously unrecognized major manifestation of PDH deficiency and is of particular interest as the mutations in the PDHA1 gene in these patients have both been identified previously in individuals with typical presentations of the condition.

• Authors: R A Head, C G E L de Goede, R W N Newton, J H Walter, M A McShane, R M Brown, G K Brown
• Journal: Developmental medicine and child neurology (Dev Med Child Neurol) Vol. 46 Issue 10 Pg. 710-2 (Oct 2004) ISSN: 0012-1622 [Print] England
• PMID: 15473177 (Publication Type: Case Reports, Journal Article)

Chemical References

• Pyruvate Dehydrogenase (Lipoamide)
• pyruvate dehydrogenase E1alpha subunit

Topics

• Child
• Child, Preschool
• Dystonic Disorders (diagnosis, etiology, genetics)
• Female
• Humans
• Male
• Mutation, Missense
• Pyruvate Dehydrogenase (Lipoamide) (genetics)
• Pyruvate Dehydrogenase Complex Deficiency Disease (complications, diagnosis, genetics)