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

M D Bain; J Till; M G Jones; G T N Besley; P Lee; D Oliveira; R A Chalmers

doi:10.1007/s10545-005-0244-1

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

J Inherit Metab Dis. 2005;28(6):1179-80. doi: 10.1007/s10545-005-0244-1.

Authors

M D Bain¹, J Till, M G Jones, G T N Besley, P Lee, D Oliveira, R A Chalmers

Affiliation

¹ Paediatric Metabolism Unit, Division of Child Health, Department of Clinical Developmental Sciences, St George's Hospital Medical School, London, UK. [email protected]

PMID: 16435224
DOI: 10.1007/s10545-005-0244-1

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.

MeSH terms

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

Substances

Methylmalonyl-CoA Mutase