3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease.
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.
Di Rocco
M
M
II Division of Pediatrics, G. Gaslini Institute, Genoa, Italy.
Caruso
U
U
Moroni
I
I
Lupino
S
S
Lamantea
E
E
Fantasia
A R
AR
Borrone
C
C
Gibson
K M
KM
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000150:complications* / Q000628:therapy / Q000652:urine; D002675:Child, Preschool; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007888:Leigh Disease / Q000097:blood / Q000150:complications* / Q000503:physiopathology / Q000652:urine; D008297:Male; D008715:Methionine / Q000097:blood*; D012886:Skull / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed
D005977:Glutarates; C022034:3-methylglutaconic acid; D008715:Methionine