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Variability of clinical presentation in fumarate hydratase deficiency
O N Elpeleg1, N Amir, E Christensen
1Metabolic Unit, Shaare-Zedek Medical Center, Jerusalem, Israel.
The Journal of Pediatrics
|November 1, 1992
Abstract:
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.