3-Methylglutaconic aciduria type I: clinical heterogeneity as a neurometabolic disease
| Autor: | A. Ishida, M. Matsumori, Hiroh Watanabe, Tsutomu Takahashi, Goro Takada, M. Enoki, Ya. Shoji, Yutaka Shoji, Yukio Sawaishi |
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| Rok vydání: | 1999 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Pediatrics Quadriplegia Severe psychomotor retardation Glutarates Neurometabolic disease Methylglutaconyl-CoA hydratase Clinical heterogeneity Genetics Medicine Humans Metabolic disease Athetosis Genetics (clinical) business.industry nutritional and metabolic diseases Infant Acidosis Renal Tubular 3-Methylglutaconic Aciduria Surgery Inherited metabolic disease Nervous System Diseases Psychomotor Disorders business Athetoid Movements |
| Zdroj: | Journal of inherited metabolic disease. 22(1) |
| ISSN: | 0141-8955 |
| Popis: | 3-Methylglutaconic (3-MGC) aciduria with 3-methylglutaconyl-CoA hydratase deficiency (3-MGC aciduria type I) is a rare inherited metabolic disease of L-leucine catabolism. We describe a 9-month-old Japanese boy with this disorder who showed progressive neurological impairments presented as quadriplegia, athetoid movements and severe psychomotor retardation from 4 months of age. This finding indicates the existence of clinical heterogeneity in 3-MGC aciduria type I, suggesting it may present as a neurometabolic disease. |
| Databáze: | OpenAIRE |
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