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

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.

• Authors: Y Shoji, T Takahashi, Y Sawaishi, A Ishida, M Matsumori, Y Shoji, M Enoki, H Watanabe, G Takada
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 22 Issue 1 Pg. 1-8 (Feb 1999) ISSN: 0141-8955 [Print] United States
• PMID: 10070612 (Publication Type: Case Reports, Journal Article)

Chemical References

• Glutarates
• 3-methylglutaconic acid

Topics

• Acidosis, Renal Tubular (complications, metabolism, physiopathology, urine)
• Athetosis (etiology)
• Glutarates (urine)
• Humans
• Infant
• Male
• Nervous System Diseases (etiology)
• Psychomotor Disorders (etiology)
• Quadriplegia (etiology)