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

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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)546-550
Number of pages5
JournalJournal of Inherited Metabolic Disease
Volume29
Issue number4
DOIs
Publication statusPublished - Aug 2006

Fingerprint

Lactic Acidosis
methylglutaconyl-CoA hydratase
Hypertrophic Cardiomyopathy
Leucine
Phenotype
Mitochondrial Diseases
Mevalonic Acid
Muscle Hypotonia
Metabolic Diseases
Metabolic Networks and Pathways
Biomarkers
3-Methylglutaconic Aciduria
Cataract and cardiomyopathy
Enzymes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

Cite this

Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis : A novel subtype of 3-methylglutaconic aciduria. / Di Rosa, Gabriella; Deodato, Federica; Loupatty, Ference J.; Rizzo, Cristiano; Carrozzo, Rosalba; Santorelli, Filippo M.; Boenzi, Sara; D'Amico, Adele; Tozzi, Giulia; Bertini, Enrico; Maiorana, Andrea; Wanders, Ronald J A; Dionisi-Vici, Carlo.

In: Journal of Inherited Metabolic Disease, Vol. 29, No. 4, 08.2006, p. 546-550.

Research output: Contribution to journalArticle

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