3‐Methylglutaconic aciduria type I: Clinical heterogeneity as a neurometabolic disease
- 1 February 1999
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 22 (1) , 1-8
- https://doi.org/10.1023/a:1005421111554
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.Keywords
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