Metabolic Diseases

European Journal of Pediatrics

, Volume 148, Issue 4, pp 344-348

First online:

Chronic renal failure in methylmalonic acidaemia

  • J. H. WalterAffiliated withDepartment of Child Health, Institute of Child Health
  • , A. MichalskiAffiliated withDepartment of Child Health, Institute of Child Health
  • , W. M. WilsonAffiliated withDepartment of Paediatric Nephrology, Institute of Child Health
  • , J. V. LeonardAffiliated withDepartment of Child Health, Institute of Child Health
  • , T. M. BarrattAffiliated withDepartment of Paediatric Nephrology, Institute of Child Health
  • , M. J. DillonAffiliated withDepartment of Paediatric Nephrology, Institute of Child Health

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Abstract

The renal function of 12 patients with non vitamin B12 responsive methylmalonic acidaemia has been investigated. Eight patients had reduced glomerular filtration rates, but the plasma creatinine concentration was only raised in those with values of less than 40ml/min per 1.73m2 surface area. The reduction in glomerular filtration was a function of the age and the severity of the disease. Plasma urate concentrations were increased in four patients but this may be secondary to the renal disease rather than its cause.

Key words

Methylmalonic acidaemia Chronic renal failure Tubulo-interstitial nephritis