title: Pyruvate dehydrogenase deficiency in a child responsive to thiamine treatment.
abstract: We report the clinical features in a 4-year-old child who was investigated for a suspected metabolic disorder but was subsequently diagnosed as having a pyruvate dehydrogenase deficiency. A muscle biopsy was performed and the data obtained suggested thiamine treatment which resulted in a regression of the clinical findings and a return to normal values of blood lactic and pyruvic acids. The interruption of thiamine supplementation after 1 year of treatment led to a prompt recurrence of the previous clinical and biochemical symptoms.
authors.affiliation: Institute of Pharmacology, Science Faculty, University of Pavia, Italy.
authors.forename: O
authors.initials: O
authors.lastname: Pastoris
authors.forename: S
authors.initials: S
authors.lastname: Savasta
authors.forename: P
authors.initials: P
authors.lastname: Foppa
authors.forename: M
authors.initials: M
authors.lastname: Catapano
authors.forename: M
authors.initials: M
authors.lastname: Dossena
mesh_terms: D001706:Biopsy; D002675:Child, Preschool; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000188:drug therapy* / Q000473:pathology; D012008:Recurrence; D013831:Thiamine / Q000627:therapeutic use*
chemical_list: D013831:Thiamine