3-Methylglutaconyl-coenzyme-A hydratase deficiency: a new case
| Autor: | C. F. Lee, R. S. Wappner, Kenneth M. Gibson |
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| Rok vydání: | 1992 |
| Předmět: |
Male
Methylglutaconyl-coenzyme A hydratase medicine.medical_specialty Neutropenia Meglutol Glutarates Urinary excretion Leucine Methylglutaconyl-CoA hydratase Internal medicine Carnitine Genetics medicine Diseases in Twins Humans Lymphocytes Genetics (clinical) Hydro-Lyases chemistry.chemical_classification business.industry Infant Dilated cardiomyopathy 3-Methylglutaconic Aciduria Fibroblasts medicine.disease Enzyme Endocrinology chemistry Speech development business |
| Zdroj: | Journal of inherited metabolic disease. 15(3) |
| ISSN: | 0141-8955 |
| Popis: | Patients presenting with increased urinary excretion of combined 3-methylglutaconic (3-MGC) and 3-methylglutaric (3-MGR) acids represent diverse clinical syndromes. Type I syndrome manifests retardation of speech development and deficient activity of 3-methylglutaconyl-coenzyme A (3-MG-CoA) hydratase in extracts of cultured cells (Narisawa et al 1986). Type II syndrome is that of dilated cardiomyopathy, growth retardation and neutropenia (Kelley et al 1989) |
| Databáze: | OpenAIRE |
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