Children's Hospital Colorado

Neurometabolic Disorder

What is a neurometabolic disorder?

Neurometabolic disorders are genetic disorders that disrupt how the body uses or produces energy from food. When this happens, there may be too much of some chemicals (energy from food) or too little of others that are needed to stay healthy.

Neurometabolic disorders may result in uncontrollable epilepsy, abnormal movements or loss of developmental milestones.

What causes a neurometabolic disorder?

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.

Who gets a neurometabolic disorder?

Neurometabolic disorders affect all ages, races and sexes. Symptoms of these conditions typically appear very early in life.

What are the signs and symptoms of a neurometabolic disorder?

Patients with a neurometabolic disorder may have:

  • Uncontrollable epilepsy  
  • Loss of developmental skills
  • Abnormal or uncontrollable movements
  • Muscle weakness
  • Vision problems (such as retinal abnormalities, cataracts or cortical blindness)
  • Hearing problems
  • Abnormal head growth (such as macrocephaly or microcephaly)

What tests are used to diagnose a neurometabolic disorder?

Neurometabolic disorders are diagnosed first through a comprehensive exam by a doctor who has specialized training to recognize these conditions.

Based on this physical exam and your child's medical history, a doctor at Children's Hospital Colorado will schedule different tests to help make a specific diagnosis. These tests can include:

  • Blood and urine tests
    • Many of the blood tests are genetic tests used to determine specific genes that may be causing the disorder.
  • Cerebrospinal fluid testing, which requires a lumbar puncture and is usually performed under anesthesia
  • Brain imaging  
  • In some cases biopsies of muscle, liver or skin are required to make a diagnosis

Why choose Children's Colorado for neurometabolic disorder testing?

As the only neurometabolic subspecialty clinic in the region, Children's Colorado has the extensive experience and testing capabilities to diagnose neurometabolic disorders.

How soon will we get test results?

While some results can be available within hours, most of these tests often take months to return a result due to the complicated testing methods.

How do providers at Children's Colorado make a diagnosis?

Our specialists use the results of genetic testing, as well as the physical exam and patient history, to diagnose a neurometabolic disorder.

What types of neurometabolic disorders do we treat?

At the Neuroscience Institute, we evaluate patients with leukodystrophy, severe medically refractory seizures, neurodegeneration or developmental regression, abnormal movement or active neurologic disease with suspicion of mitochondrial disorders, storage disorders or neurotransmitter disorders.

How are neurometabolic disorders treated?

Most neurometabolic disorders do not have specific treatments or cures. Making a precise diagnosis is important to understand the underlying cause so that future treatments can be offered, when they become available. In addition, knowing the diagnosis may also help to provide genetic counseling for families to help with future children. Understanding the diagnosis allows doctors at Children's Colorado to focus on ensuring the best possible quality of life for our patients.

Why choose Children's Colorado for a child with neurometabolic disorders?

Our multidisciplinary team is made of board-certified genetic counselors, biochemical geneticists and a pediatric neurologist. Currently, we are the only hospital in the region with the diagnostic capability and extensive experience in evaluating patients born with neurometabolic disorders.

What to expect from your visit to the Neurometabolic Diagnostic Clinic

Before your appointment, our counselors and physicians will review and summarize your child's medical records.

During your clinic visit, you'll meet with a genetic counselor who will review your child's medical history with you.

Our physicians will then perform physical examinations, record additional medical history information and answer your questions. Based on the medical history and physical examinations, we'll share our recommendations for additional testing and outline a plan for diagnosing your child.

What happens after a visit to the Neurometabolic Diagnostic Clinic?

After the clinic, you and your primary care provider will receive a detailed letter with recommendations from our providers. Our genetic counselors will work with you and your primary care physician to complete the recommendations listed, including seeking insurance approval if required.

Our genetic counselors will also discuss with you the genetics of the disease, the recurrence risks for future pregnancies and help identify other family members who may be at risk. They'll also help to provide support to your family and help you find available resources in the community.