Methylmalonic aciduria: follow-up and enzymology on the original case after 36 years.
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.
Bain
M D
MD
Paediatric Metabolism Unit, Division of Child Health, Department of Clinical Developmental Sciences, St George's Hospital Medical School, London, UK. mbain@sgul.ac.uk
Till
J
J
Jones
M G
MG
Besley
G T N
GT
Lee
P
P
Oliveira
D
D
Chalmers
R A
RA
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
D008765:Methylmalonyl-CoA Mutase