title: Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria.
abstract: We describe a patient with methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism of the Cbl-C type mutant (McKusick 277400). Our case was diagnosed within the first 2 months of life by amino acid analysis (ion-exchange chromatography) and by biochemical studies in cultured fibroblasts ([14C]propionate incorporation, methionine and serine formation). We discuss the clinical course and the biochemical evolution after 2 years of hydroxycobalamin treatment that led to an improvement in general clinical condition and neurological performance.
authors: Department of Child Health and Neonatal Medicine, University of Genoa, Italy.
authors: C
authors: C
authors: Bellini
authors: R
authors: R
authors: Cerone
authors: W
authors: W
authors: Bonacci
authors: U
authors: U
authors: Caruso
authors: C P
authors: CP
authors: Magliano
authors: G
authors: G
authors: Serra
authors: B
authors: B
authors: Fowler
authors: C
authors: C
authors: Romano
mesh_terms: D000596:Amino Acids / Q000097:blood / Q000652:urine; D005260:Female; D006712:Homocystinuria / Q000097:blood / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy* / Q000652:urine; D006801:Humans; D006879:Hydroxocobalamin / Q000627:therapeutic use*; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy* / Q000652:urine; D008764:Methylmalonic Acid / Q000652:urine*; D014805:Vitamin B 12 / Q000378:metabolism*
chemical_list: D000596:Amino Acids; D008764:Methylmalonic Acid; D014805:Vitamin B 12; D006879:Hydroxocobalamin