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.
Elpeleg
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ON
Metabolic Unit, Shaare-Zedek Medical Center, Jerusalem, Israel.
Amir
N
N
Christensen
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E
D002547:Cerebral Palsy / Q000175:diagnosis*; D002675:Child, Preschool; D003951:Diagnostic Errors; D005260:Female; D005649:Fumarate Hydratase / Q000172:deficiency*; D005650:Fumarates / Q000652:urine; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D008661:Metabolism, Inborn Errors / Q000175:diagnosis; D009123:Muscle Hypotonia / Q000175:diagnosis; D013386:Succinates / Q000652:urine; D019802:Succinic Acid
D005650:Fumarates; D013386:Succinates; C032005:fumaric acid; D019802:Succinic Acid; D005649:Fumarate Hydratase