Di Rocco M, Caruso U, Moroni I, Lupino S, Lamantea E, Fantasia A R, Borrone C, Gibson K M
II Division of Pediatrics, G. Gaslini Institute, Genoa, Italy.
J Inherit Metab Dis. 1999 Jun;22(5):593-8. doi: 10.1023/a:1005565610613.
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.
