Neurometabolic / Neurogenetic Disorders

Neurometabolic disorders are caused by genetic mutations, which are changes in the genetic code. These defects may be inherited from unaffected parents or may be the result of a new change in a child’s genes. Neurometabolic disorders are an important group of diseases that mostly are presented in newborns and infants.

Neurological manifestations are the prominent signs and symptoms in this group of diseases. Seizures are a common sign and are often refractory to antiepileptic drugs in untreated neurometabolic patients.

It is often fatal but severe neurological insult and regression in Neurodevelopmental milestones can result as a prominent sign in patients who survived.

Early detection and early intervention is invaluable in some patients to prevent catabolism and normal or near normal Neurodevelopmental milestones.

Treatment will vary depending on what type of neurometabolic disease your child has. At Nemour, your child will be seen in our neurometabolic program and be seen by paediatric neurologist. Most neurometabolic disorders treatments are based on the specific condition.