Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria

K. M. Gibson*, W. G. Sherwood, G. F. Hoffmann, D. A. Stumpf, I. Dianzanl, R. B.H. Schutgens, P. G. Barth, U. Weismann, C. Bachmann, P. Schrynemackers-Pitance, A. Verloes, K. Narisawa, M. Mino, N. Ohya, R. I. Kelley

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

48 Scopus citations


Combined 3-methylglutaconic and 3-methylglutaric aciduria, one of the more common urinary organic acid abnormalities, has been observed in at least three clinical syndromes. We studied an additional seven patients with 3-methylglutaconic aciduria, four of whom were best categorized as having the type II syndrome, two as having an "unspecified" syndrome, and one who may have had a primary urea cycle defect. In cultured cells and autopsy tissues derived from patients with the type II and unspecified syndromes, we were unsuccessful In identifying a defect in the leucine degradative pathway distal to 3-methylcrotonyl-coenzyme A carboxylase and in the cholesterol biosynthetic pathway between 3-hydroxy-3-methylglutaryl-coenzyme A reductase and diphosphom-evalonate decarboxylase. Further assessment of the cholesterol biosynthetic pathway in several patients with one of the two types of disease also provided no defined abnormality. The primary metabolic defects in the type II and unspecified syndromes remain undefined.

Original languageEnglish (US)
Pages (from-to)885-890
Number of pages6
JournalThe Journal of pediatrics
Issue number6
StatePublished - Jun 1991

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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