title: Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient.
abstract: A patient with infantile onset methylmalonic aciduria and homocystinuria (Cbl-C mutant) is described. Therapy with hydroxycobalamin, folate and vitamin B6 improved his condition. As hypomethioninaemia and homocystinaemia persisted, he was treated with intramuscular methylcobalamin, but without success. Treatment with betaine started at 25 months of age, normalized plasma methionine and elicited disappearance of homocystinaemia. Results of biochemical studies in cultured fibroblasts paralleled those described for other Cbl-C patients except that methylmalonyl-coenzyme A mutase activity in disrupted fibroblasts was in the normal range.
authors.affiliation: Institut de Bioquímica, Clínica de la Diputació de Barcelona, Cerdanyola, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Ribes
authors.forename: P
authors.initials: P
authors.lastname: Briones
authors.forename: M A
authors.initials: MA
authors.lastname: Vilaseca
authors.forename: M
authors.initials: M
authors.lastname: Lluch
authors.forename: M
authors.initials: M
authors.lastname: Rodes
authors.forename: A
authors.initials: A
authors.lastname: Maya
authors.forename: J
authors.initials: J
authors.lastname: Campistol
authors.forename: P
authors.initials: P
authors.lastname: Pascual
authors.forename: T
authors.initials: T
authors.lastname: Suormala
authors.forename: R
authors.initials: R
authors.lastname: Baumgartner
mesh_terms: D001622:Betaine / Q000627:therapeutic use; D002675:Child, Preschool; D005260:Female; D006712:Homocystinuria / Q000378:metabolism*; D006801:Humans; D007223:Infant; D008297:Male; D008314:Malonates / Q000652:urine*; D008661:Metabolism, Inborn Errors / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism*; D008764:Methylmalonic Acid / Q000652:urine*; D009154:Mutation; D014805:Vitamin B 12 / Q000235:genetics / Q000378:metabolism
chemical_list: D008314:Malonates; D001622:Betaine; D008764:Methylmalonic Acid; D014805:Vitamin B 12