3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease

J Inherit Metab Dis. 1999 Jun;22(5):593-8. doi: 10.1023/a:1005565610613.

Abstract

We report on a child with a clinical and neuroradiological picture consistent with Leigh disease and an unusual association of isolated hypermethioninaemia and 3-methylglutaconic aciduria. A low-methionine diet normalized both plasma methionine and urine 3-methylglutaconic acid; a methionine-loading test led to significant increase of both metabolites. In the skin fibroblasts the activity of 3-methylglutaconyl-CoA hydratase was essentially normal. No explanation of this uncommon association of hypermethioninaemia and glutaconic aciduria is available. The possibility of a common transporter for 3-methylglutaconic acid and methionine is an attractive hypothesis.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / blood
  • Amino Acid Metabolism, Inborn Errors / complications*
  • Amino Acid Metabolism, Inborn Errors / therapy
  • Amino Acid Metabolism, Inborn Errors / urine
  • Child, Preschool
  • Glutarates / urine*
  • Humans
  • Leigh Disease / blood
  • Leigh Disease / complications*
  • Leigh Disease / physiopathology
  • Leigh Disease / urine
  • Male
  • Methionine / blood*
  • Skull / diagnostic imaging
  • Tomography, X-Ray Computed

Substances

  • Glutarates
  • 3-methylglutaconic acid
  • Methionine