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Metabolic and Mitochondrial Disorders

Our therapists here at Duke Children’s Hospital work closely with physicians in the Metabolic Clinic to ensure the best treatment for your child. Your child will be followed by a team of highly skilled physicians and therapists to ensure that all of their needs are being met. We offer comprehensive care for your child with a metabolic or mitochondrial disorder. We serve children from the neonatal period until they are 21 or older. In addition to their comprehensive therapies, we can order and modify any necessary equipment (i.e., walkers, wheelchairs) and orthotics here at Lenox Baker. We work closely with the specialized physicians to ensure that your child is receiving the best in care.
Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances into other products. In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function. This can directly impact your child’s functional abilities, such as activities of daily living, sitting, standing and walking. Your therapist will work with your child to develop a customized plan of care to optimize your child’s outcome.
In Mitochondrial disease, one or more of the components of the chemical reactions that turn food into energy does not work perfectly. As a result, there is an energy crisis and cells cannot function normally. The incompletely burned food can accumulate as a poison in the body. Mitochondrial diseases might affect the cells of the brain, nerves (including the nerves to the stomach and intestines), muscles, kidneys, heart, liver, eyes, ears, or pancreas. Our therapists have worked with children whose mobility was very impaired at baseline; in conjunction with their medical therapies these children have made significant gains in strength, balance, coordination and functional mobility so that they are able to resume preferred play activities and have more energy for activities of daily living. Preliminary research indicates that prescribed exercise seems to play a role in facilitating optimal outcomes in this patient population.


PT Treatment
  • Therapeutic Exercise
  • Balance Training
  • Facilitation of Movement
  • Gross Motor Skills
  • Functional Mobility
  • Gait Training
  • Adapitive Equiment, Positioning, Orthoses
OT Treatment
  • Fine Motor Skills Training
  • Visual-Motor Skills Training
  • Sensory Integration


Related links:

http://www.umdf.org United Mitochondrial Disease Foundation
http://www.simd.org/ Society for Inherited Metabolic Disorders