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Case Reports
. 1999 Feb;22(1):1-8.
doi: 10.1023/a:1005421111554.

3-Methylglutaconic aciduria type I: clinical heterogeneity as a neurometabolic disease

Y Shoji  1 , T Takahashi, Y Sawaishi, A Ishida, M Matsumori, Y Shoji, M Enoki, H Watanabe, G Takada
Affiliations
Case Reports

3-Methylglutaconic aciduria type I: clinical heterogeneity as a neurometabolic disease

Y Shoji et al. J Inherit Metab Dis. 1999 Feb.

Abstract

3-Methylglutaconic (3-MGC) aciduria with 3-methylglutaconyl-CoA hydratase deficiency (3-MGC aciduria type I) is a rare inherited metabolic disease of L-leucine catabolism. We describe a 9-month-old Japanese boy with this disorder who showed progressive neurological impairments presented as quadriplegia, athetoid movements and severe psychomotor retardation from 4 months of age. This finding indicates the existence of clinical heterogeneity in 3-MGC aciduria type I, suggesting it may present as a neurometabolic disease.

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