Subject(s)
Aconitate Hydratase/deficiency , Iron-Binding Proteins , Diagnosis, Differential , Friedreich Ataxia/genetics , Friedreich Ataxia/physiopathology , Humans , Neuromuscular Diseases/etiology , Phosphotransferases (Alcohol Group Acceptor)/genetics , Prognosis , Trinucleotide Repeat Expansion , FrataxinABSTRACT
Pyruvate dehydrogenase complex (PDHC) deficiency, a major cause of congenital lactic acidemia in children, usually is complicated by seizures, and, in some patients, West syndrome has occurred. We diagnosed 60 patients with PDHC deficiency, including equal numbers of affected males and females. We studied the clinical features in 10 patients with West syndrome caused by PDHC deficiency, and examined the relation to the mutation of the E(1)alpha subunit, representing the great majority of PDHC deficiencies. Among 30 boys and 30 girls with PDHC deficiency,1 boy and 9 girls had West syndrome, even though overall West syndrome shows a slight male preponderance. Therefore, West syndrome associated with PDHC deficiency occurred in 9 of 30 female patients (33%), but in only 1 of 30 male patients (3%). The frequency of West syndrome in patients with PDHC deficiency was significantly higher in females than in males(p<0.05). Lactate concentrations in blood and CSF should be measured in female patients with West syndrome as a screening test for PDHC deficiency, because of gender-specific occurrence of West syndrome caused by PDHC deficiency.
