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Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: A novel subtype of 3‐methylglutaconic aciduria
Author(s) -
Rosa Gabriella Di,
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.,
DionisiVici Carlo
Publication year - 2006
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-006-0279-y
Subject(s) - hypotonia , lactic acidosis , mitochondrial myopathy , medicine , endocrinology , metabolic acidosis , metabolic disorder , leucine , cardiomyopathy , biology , genetics , amino acid , mitochondrial dna , heart failure , gene
Summary 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.