Our Services

Neurogenetics and Metabolism Clinic

Description of Services

Providing a higher level of treatment and support to children with neurogenetic conditions.

The Neurogenetics and Metabolism Clinic at Children’s Hospital’s Brain Care Institute is the region’s leading clinic for the diagnosis and treatment of mitochondrial, metabolic, and other  neurogenetic  disorders in infants, toddlers, adolescents, and young adults. Patients receive comprehensive, leading-edge care in a warm environment by highly trained physicians and staff who are experts in a wide variety of mitochondrial and metabolic disorders. Clinic services include complete diagnostic evaluations and genetic testing, customized treatment plans, and ongoing follow-up and support.

Mitochondrial diseases: When powerhouses in the cells are disrupted.

Mitochondria are the parts of cells that generate energy and determine cell behavior and function. In cases of mitochondrial diseases or disorders, genetic mutations in the mitochondrial DNA or nuclear DNA result in the disruption of critical cell functions, causing such symptoms as developmental delays, seizures, hearing and vision loss, heart problems, gastrointestinal symptoms, diabetes, and other conditions.

Recognizing the symptoms of mitochondrial disease.

Although they may vary from child to child, symptoms of mitochondrial diseases include:

  • Cardiac arrhythmias
  • Cardiomyopathy, or a disease of the heart muscle
  • Cerebral palsy
  • Developmental delays
  • Diabetes
  • Epilepsy
  • Feeding difficulties, such as failure to thrive, reflux/constipation, liver dysfunction, pancreatic dysfunction
  • Headaches
  • Hypotonia, or a state of low muscle tone or reduced muscle strength
  • Pain or lack of response to pain
  • Temperature dysregulation, or the lack of ability to control one’s temperature
  • Thyroid disease
  • Vision or hearing loss
  • Weakness and exercise intolerance

Metabolic disorders: How genes can cause faulty chemical reactions.

Metabolism refers to the body’s process of making energy from the foods we eat. Enzymes in the digestive system break down food into certain chemicals to use as fuel or store as energy. When an abnormal chemical reaction interferes with the body's metabolism, the result is a metabolic disorder. Metabolic disorders are also referred to as inborn errors of metabolism.

Recognizing the symptoms of a metabolic disorder.

Children with genetic (inherited) metabolic disorders may have a variety of symptoms that may have been misdiagnosed as cerebral palsy, autism, or another condition that has symptoms resembling metabolic syndrome. Some common symptoms of metabolic disorder include:

  • Abnormal movements
  • An abnormally small head or brain
  • Birth defects
  • Developmental delays
  • Growth problems
  • Seizures
  • Hypoglycemia
  • Muscle weakness, exercise intolerance, rhabdomyolysis (the rapid breakdown of skeletal muscle tissue due to injury)

Learn more about our team.

Referral Requirements

For information about a referral, please contact the Neurogenetics and Metabolism Clinic by phone at 412-692-5520.

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Last Update
June 24, 2013