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Gender-Specific Occurrence of West Syndrome in Patients with Pyruvate Dehydrogenase Complex Deficiency
- Source :
- Neuropediatrics. 32:295-298
- Publication Year :
- 2002
- Publisher :
- Georg Thieme Verlag KG, 2002.
-
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
- 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
Subjects
Details
- ISSN :
- 14391899 and 0174304X
- Volume :
- 32
- Database :
- OpenAIRE
- Journal :
- Neuropediatrics
- Accession number :
- edsair.doi.dedup.....9ea9c7fb203ebfb22d5acc1384a77ac9