Frequently Asked Questions about Neurometabolic Disorers

What is a neurometabolic disorder?

Neurometabolic disorders are a group of disorders that are characterized by a lack or dysfunction of an enzyme or vitamin necessary for a specific chemical reaction in the body that can lead to specific types of neurometabolic disorders. A lack of these essential metabolites may impair normal brain development.

What are the signs and symptoms of neurometabolic disorder?

With many types of neurometabolic disorders, symptoms first appear in babies or in very young children. Symptoms will vary based on the type of neurometabolic disease a child has.

In some neurometabolic disorders, the structure of the brain has abnormally developed before birth. In other neurometabolic disorders, symptoms become apparent just after birth and at the start of feeding.

Some general symptoms of neurometabolic disorders may include:

• Seizures
• Uncontrollable epilepsy
• Loss of developmental skills
• Abnormal or uncontrollable movements
• Weak muscles
• Poor feeding
• Respiratory distress
• Vomiting and more.

How is a neurometabolic disorder diagnosed?

CHOC specialists use the results of genetic testing, as well as a thorough physical exam and patient history to diagnose a neurometabolic diorder.
Some of the tests may include blood and urine tests, cerebrospinal fluid testing, brain imaging and biopsies.

How is a neurometabolic disorder treated?

Treatment will vary depending on what type of neurometabolic disease your child has. At CHOC, your child will be seen in our neurometabolic program and be seen by a team of specialists, including board-certified geneticists and neurologists. Most neurometabolic disorders to not have specific treatments or cures, but are based on the specific condition.