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3‐Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease
Author(s) -
Di Rocco M.,
Caruso U.,
Moroni I.,
Lupino S.,
Lamantea E.,
Fantasia A. R.,
Borrone C.,
Gibson K. M.
Publication year - 1999
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005565610613
Subject(s) - methionine , medicine , endocrinology , urine , disease , amino acid , biology , biochemistry
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.