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

M. Di Rocco, U. Caruso, I. Moroni, S. Lupino, E. Lamantea, A. R. Fantasia, C. Borrone, K. M. Gibson

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)593-598
Number of pages6
JournalJournal of Inherited Metabolic Disease
Volume22
Issue number5
DOIs
Publication statusPublished - 1999

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

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