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.

Get to know our pediatric experts.

Cornelia Drees, MD

Cornelia Drees, MD

Clinical Neurophysiology, Epilepsy, Neurology

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Austin Larson, MD

Austin Larson, MD

Clinical Genetics and Genomics - General, Pediatrics

Janet Thomas, MD

Janet Thomas, MD

Clinical Biochemical Genetics, Clinical Genetics and Genomics - General

Michele Yang, MD

Michele Yang, MD

Child Neurology, Neuromuscular Medicine