title: Pyruvate dehydrogenase E1alpha subunit deficiency in a female patient: evidence of antenatal origin of brain damage and possible etiology of infantile spasms.
abstract: Enlargement of the lateral ventricles and atrophy of the brain were documented ultrasonographically in utero at as early as 28th week of gestation in a female patient with lactic acidosis due to deficiency of the pyruvate dehydrogenase E1alpha subunit, demonstrating that the changes characteristic of this disease can occur antenatally. The mechanism of infantile spasms in this disease may be linked to mosaicism of the brain cells involving the normal enzyme and the mutant enzyme.
authors.affiliation: Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, 830-0011, Kurume, Japan.
authors.forename: Naoko
authors.initials: N
authors.lastname: Wada
authors.forename: Toyojiro
authors.initials: T
authors.lastname: Matsuishi
authors.forename: Michiko
authors.initials: M
authors.lastname: Nonaka
authors.forename: Etsuo
authors.initials: E
authors.lastname: Naito
authors.forename: Makoto
authors.initials: M
authors.lastname: Yoshino
mesh_terms: D004569:Electroencephalography; D005072:Evoked Potentials, Auditory; D005260:Female; D005315:Fetal Diseases / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D011247:Pregnancy; D011296:Prenatal Diagnosis; D030481:Pyruvate Dehydrogenase (Lipoamide) / Q000172:deficiency*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000150:complications* / Q000473:pathology*; D013036:Spasms, Infantile / Q000209:etiology*
chemical_list: D030481:Pyruvate Dehydrogenase (Lipoamide); C065640:pyruvate dehydrogenase E1alpha subunit