title: Pyruvate dehydrogenase complex deficiency with multiple minor anomalies.
abstract: Pyruvate dehydrogenase complex (PDHC) deficiency is known to cause congenital lactic acidosis. The case of a 9-month-old female infant with PDHC deficiency caused by a mutation in exon 11 of the pyruvate dehydrogenase (PDH) E1 alpha gene is described. Her facial features were as follows: frontal bossing, upslanting palpebral fissures, a short upturned nose, a long philtrum and low set ears. These anomalies are characteristic not only of a malformation syndrome or chromosomal aberration, but also of PDHC deficiency. Because PDHC deficiency requires early treatment, metabolic disorders should be kept in mind in a patient with dysmorphic features. Further, she had multiple minor anomalies including bilateral inguinal herniae, an umbilical hernia and small hands and feet, which have not been described in previous reports.
authors.affiliation: Department of Pediatrics, Asahikawa Habilitation Center for Disabled Children, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Saijo
authors.forename: H
authors.initials: H
authors.lastname: Tanaka
authors.forename: J
authors.initials: J
authors.lastname: Ito
authors.forename: T
authors.initials: T
authors.lastname: Tasaki
authors.forename: K
authors.initials: K
authors.lastname: Cho
authors.forename: A
authors.initials: A
authors.lastname: Tokumitsu
authors.forename: S
authors.initials: S
authors.lastname: Takahashi
authors.forename: A
authors.initials: A
authors.lastname: Miyamoto
authors.forename: J
authors.initials: J
authors.lastname: Oki
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000150:complications* / Q000175:diagnosis / Q000235:genetics