Article
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.
Developmental medicine and child neurology - 1 Feb 2010
Barnerias Christine, Saudubray Jean-Marie, Touati Guy, De Lonlay Pascale, Dulac Olivier, Ponsot Gerard, Marsac Cécile, Brivet Michèle, Desguerre Isabelle
Abstract excerpt
AIM: To describe the phenotype and genotype of pyruvate dehydrogenase complex (PDHc) deficiency. METHOD: Twenty-two participants with enzymologically and genetically confirmed PDHc deficiency were analysed for clinical and imaging features over a 15-year period. RESULTS: Four groups were identified: (1) those with neonatal encephalopathy with lactic acidosis (one male, four females; diagnosis at birth); (2) those...
Topics
- Adolescent
- Brain
- Female
- Genetic Predisposition to Disease
- Humans
- Longitudinal Studies
- Magnetic Resonance Imaging
- Male
- Motor Skills Disorders
- Mutation