Methylmalonic aciduria: follow-up and enzymology on the original case after 36 years.

Authors :: Bain MD
Till J
Jones MG
Besley GT
Lee P
Oliveira D
Chalmers RA
Source :: Journal of inherited metabolic disease [J Inherit Metab Dis] 2005; Vol. 28 (6), pp. 1179-80.
Publication Year :: 2005
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.

Subjects :: Adult
Biopsy
Female
Fibroblasts metabolism
Follow-Up Studies
Humans
Renal Dialysis
Skin pathology
Treatment Outcome
Kidney Diseases diagnosis
Metabolism, Inborn Errors diagnosis
Metabolism, Inborn Errors enzymology
Methylmalonyl-CoA Mutase deficiency

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