Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria
| Autor: | Ronald J.A. Wanders, Carlo Dionisi-Vici, Gabriella Di Rosa, Enrico Bertini, Federica Deodato, Sara Boenzi, Andrea Maiorana, Giulia Tozzi, Adele D'Amico, Ference J. Loupatty, Filippo M. Santorelli, Cristiano Rizzo, Rosalba Carrozzo |
|---|---|
| Přispěvatelé: | Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases |
| Jazyk: | angličtina |
| Rok vydání: | 2006 |
| Předmět: |
Male
medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Developmental Disabilities Cardiomyopathy Cataract Glutarates Mitochondrial myopathy Internal medicine Genetics medicine Humans Amino Acid Metabolism Inborn Errors Genetics (clinical) Acidosis Family Health business.industry Infant Newborn Brain Infant nutritional and metabolic diseases Metabolic acidosis 3-Methylglutaconic Aciduria Cardiomyopathy Hypertrophic medicine.disease Magnetic Resonance Imaging Hypotonia Pedigree Endocrinology Lactic acidosis Acidosis Lactic Female medicine.symptom Leucine business |
| Zdroj: | Journal of inherited metabolic disease, 29(4), 546-550. Springer Netherlands |
| ISSN: | 0141-8955 |
| DOI: | 10.1007/s10545-006-0279-y |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink