Chronic renal failure in methylmalonic acidaemia

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.