title: Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.
abstract: Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B(12) (cobalamin) metabolism. The recent cloning of the disease gene, MMACHC, has permitted genotype-phenotype correlation. In a 1-year-old girl, compound heterozygous c.271dupA and c.616C>T mutations in MMACHC were identified as causing an early onset methylmalonic aciduria and homocystinuria, cblC type, which was complicated by sensorimotor peripheral demyelinating neuropathy.
authors.affiliation: Child Neurology Unit, Arcispedale Santa Maria Nuova, 42100 Reggio Emilia, Italy. frattini.daniele@asmn.re.it
authors.forename: Daniele
authors.initials: D
authors.lastname: Frattini
authors.forename: Carlo
authors.initials: C
authors.lastname: Fusco
authors.forename: Valentina
authors.initials: V
authors.lastname: Ucchino
authors.forename: Barbara
authors.initials: B
authors.lastname: Tavazzi
authors.forename: Elvio
authors.initials: E
authors.lastname: Della Giustina
mesh_terms: D003711:Demyelinating Diseases / Q000150:complications / Q000652:urine*; D005260:Female; D056726:Genetic Association Studies; D006712:Homocystinuria / Q000150:complications / Q000652:urine*; D006801:Humans; D007223:Infant; D008764:Methylmalonic Acid / Q000652:urine*; D009431:Neural Conduction / Q000502:physiology; D010523:Peripheral Nervous System Diseases / Q000150:complications / Q000652:urine*
chemical_list: D008764:Methylmalonic Acid