Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.

Abstract

3-Methylglutaconic aciduria is the biochemical marker of several inherited metabolic diseases. Four types of 3-methylglutaconic aciduria can be distinguished. In the type I form, accumulation of 3-methylglutaconate is due to deficient activity of 3-methylglutaconyl-CoA hydratase, an enzyme of the leucine degradation pathway. In the other forms, 3-methylglutaconic acid is not derived from leucine but is of unidentified origin, possibly derived from other metabolic pathways, such as mevalonate metabolism. We report five patients, all presenting a severe early-onset phenotype characterized by 3-methylglutaconic aciduria, hypertrophic cardiomyopathy, cataract, hypotonia/developmental delay, lactic acidosis, and normal 3-methylglutaconyl-CoA hydratase activity. This peculiar phenotype, for which a primary mitochondrial disorder is hypothesized, identifies a novel subtype of 3-methylglutaconic aciduria.

• Authors: Gabriella Di Rosa, Federica Deodato, Ference J Loupatty, Cristiano Rizzo, Rosalba Carrozzo, Filippo M Santorelli, Sara Boenzi, Adele D'Amico, Giulia Tozzi, Enrico Bertini, Andrea Maiorana, Ronald J A Wanders, Carlo Dionisi-Vici
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 29 Issue 4 Pg. 546-50 (Aug 2006) ISSN: 1573-2665 [Electronic] United States
• PMID: 16736096 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Glutarates
• 3-methylglutaconic acid

Topics

• Acidosis, Lactic (diagnosis)
• Amino Acid Metabolism, Inborn Errors (diagnosis)
• Brain (metabolism)
• Cardiomyopathy, Hypertrophic (diagnosis)
• Cataract (diagnosis)
• Developmental Disabilities (diagnosis)
• Family Health
• Female
• Glutarates (urine)
• Humans
• Infant
• Infant, Newborn
• Magnetic Resonance Imaging
• Male
• Pedigree