title: Methylmalonic aciduria: follow-up and enzymology on the original case after 36 years.
abstract: A 36-year follow-up on the original patient described with methylmalonic aciduria has shown that she has methylmalonyl-CoA apomutase deficiency. The main clinical problem associated with her methylmalonic aciduria is progressive renal impairment requiring commencement of haemodialysis at 42 years of age.
authors.affiliation: Paediatric Metabolism Unit, Division of Child Health, Department of Clinical Developmental Sciences, St George's Hospital Medical School, London, UK. mbain@sgul.ac.uk
authors.forename: M D
authors.initials: MD
authors.lastname: Bain
authors.forename: J
authors.initials: J
authors.lastname: Till
authors.forename: M G
authors.initials: MG
authors.lastname: Jones
authors.forename: G T N
authors.initials: GT
authors.lastname: Besley
authors.forename: P
authors.initials: P
authors.lastname: Lee
authors.forename: D
authors.initials: D
authors.lastname: Oliveira
authors.forename: R A
authors.initials: RA
authors.lastname: Chalmers
mesh_terms: D000328:Adult; D001706:Biopsy; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D005500:Follow-Up Studies; D006801:Humans; D007674:Kidney Diseases / Q000175:diagnosis*; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology*; D008765:Methylmalonyl-CoA Mutase / Q000172:deficiency*; D006435:Renal Dialysis; D012867:Skin / Q000473:pathology; D016896:Treatment Outcome
chemical_list: D008765:Methylmalonyl-CoA Mutase