Table 5.

Recommended Surveillance for Individuals with Fumarate Hydratase Deficiency

System/ConcernEvaluationFrequency
Seizures Eval by pediatric neurologistAt least annually to monitor for &/or treat epilepsy
Musculoskeletal complications Physical medicine evalAt least annually to monitor for equipment needs & to monitor for &/or treat manifestations of spasticity
Orthopedics evalAs needed to monitor contractures &/or scoliosis
Ophthalmology Ophthalmology eval for visual acuity & nystagmusAs recommended by ophthalmologist

From: Fumarate Hydratase Deficiency

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