1. Gender-Specific Occurrence of West Syndrome in Patients with Pyruvate Dehydrogenase Complex Deficiency
- Author
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Kumi Shinahara, Takahiko Saijo, Yasuhiro Kuroda, Etsuo Naito, Ichiro Yokota, Michinori Ito, and Yukiko Ogawa
- Subjects
Male ,medicine.medical_specialty ,DNA Mutational Analysis ,Physiology ,Central nervous system disease ,Epilepsy ,Sex Factors ,Polymorphism (computer science) ,Internal medicine ,Humans ,Medicine ,Pyruvate Dehydrogenase (Lipoamide) ,Pyruvate Dehydrogenase Complex Deficiency Disease ,Polymorphism, Single-Stranded Conformational ,Acidosis ,business.industry ,Infant, Newborn ,Infant ,West Syndrome ,Exons ,General Medicine ,medicine.disease ,Pyruvate dehydrogenase complex ,Pyruvate dehydrogenase deficiency ,Cross-Sectional Studies ,Endocrinology ,Pediatrics, Perinatology and Child Health ,Acidosis, Lactic ,Female ,Neurology (clinical) ,medicine.symptom ,business ,Complication ,Spasms, Infantile - Abstract
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
- Published
- 2002
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