fumarates has been researched along with Cerebral-Palsy* in 1 studies
1 other study(ies) available for fumarates and Cerebral-Palsy
| Article | Year |
|---|---|
Variability of clinical presentation in fumarate hydratase deficiency.
A 5-year-old girl with a previous diagnosis of cerebral palsy, nonprogressive psychomotor retardation, and hypotonia was found to excrete excessive fumaric acid in urine. Fumarate hydratase activity in skin fibroblasts was 10% of the control value. This case underscores the clinical heterogeneity of neurometabolic disorders and the importance of organic acid analysis in the diagnosis of static encephalopathy. Topics: Cerebral Palsy; Child, Preschool; Diagnostic Errors; Female; Fumarate Hydratase; Fumarates; Humans; Intellectual Disability; Metabolism, Inborn Errors; Muscle Hypotonia; Succinates; Succinic Acid | 1992 |