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

Fingerprint

Leigh Disease
Methionine
methylglutaconyl-CoA hydratase
Fibroblasts
Urine
Diet
Skin
Hypermethioninemia
3-Methylglutaconic Aciduria

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

Cite this

3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease. / Di Rocco, M.; Caruso, U.; Moroni, I.; Lupino, S.; Lamantea, E.; Fantasia, A. R.; Borrone, C.; Gibson, K. M.

In: Journal of Inherited Metabolic Disease, Vol. 22, No. 5, 1999, p. 593-598.

Research output: Contribution to journalArticle

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AU - Caruso, U.

AU - Moroni, I.

AU - Lupino, S.

AU - Lamantea, E.

AU - Fantasia, A. R.

AU - Borrone, C.

AU - Gibson, K. M.

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