Pediatric Genetics and Metabolism

Genetics is an overarching component of medical care. Most medical conditions have a genetic component or are impacted by a person’s genetic makeup. 

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Some are directly caused by errors in our genes. Medical genetics is an emerging field that provides information, diagnosis and treatment of genetic conditions. Genetic disorders are due to changes in a person’s genes and can result in a wide variety of conditions, from autism to cancer.

Our Approach

Some genetic conditions cause birth defects, problems in growth or intellectual development, or health problems ranging from familial cancer to inherited changes in metabolism, the chemical reactions that your body needs to provide energy and maintain life.

Some inherited metabolic disorders are diagnosed through newborn screening. Others aren’t apparent until they develop into a medical condition. Medical genetics professionals diagnose and treat inherited metabolic disorders.

Specialists in genetics and metabolism with M Health Fairview have many years of experience in diagnosing and treating genetic disorders and inherited metabolic conditions. Medical geneticists are physicians who provide diagnosis and treatment for genetic conditions. They are certified by the American Board of Medical Genetics.

Multidisciplinary teams that can include medical genetics physicians, nurse practitioners, genetic counselors, metabolic dietitians, and neuropsychologists treat M Health adult and pediatric patients with a genetic or metabolic disorder.

Our genetics services providers are also actively involved in clinical and academic research, public health, scientific collaborations, and education. Our program is the primary program in Minnesota to diagnose and care for people with inherited metabolic conditions across their lifespan.

Conditions We Treat

The Genetics and Metabolism team at M Health Fairview treat Fragile X Syndrome, Medical assessment of autism, Fatty acid oxidation disorders, Amino acid disorders, Organic acidemias, Urea cycle disorders, Lysosomal disorders, Loeys-Dietz syndrome, Stickler syndrome, RAS pathway disorders, Costello syndrome, CFC syndrome, Skeletal dysplasia, Hemihypertrophy, and Beckwith Wiedemann syndrome, as well as:

Treatments, Tests, and Procedures

Pediatric Blood and Marrow Transplant & Cellular Therapy

At University of Minnesota Masonic Children's Hospital, we perform the two main types of stem cell transplant: Autologous transplant – uses the body’s own stem cells and Allogeneic transplant – uses well-matched stem cells from another person.
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Left Atrial Appendage Closure

The left atrial appendage (LAA) is a small sac in the wall of the top left chamber of the heart. Normally, it fills with blood and empties with each heartbeat. If you have atrial fibrillation, however, your heart may beat too rapidly and irregularly, not giving the left atrium and the LAA time to empty completely.
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Lung Transplant

A diseased or failing lung can be replaced with a healthy lung in a surgical procedure known as a lung transplant. This procedure is reserved for people who have tried other medications or treatments, but their condition and quality of life hasn't sufficiently improved.
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Nutrition Therapy

Cystic fibrosis (CF) can affect the pancreas which produces enzymes and fluids to help you digest food. This can cause a number of digestive problems from poor absorption of food and nutrients to gas and constipation and blockage in the digestive tract.
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Neuromuscular Ultrasound

Neuromuscular ultrasound is an imaging test which is complementary to the electromyography (EMG) and nerve conduction studies (NCS) and allows your physician to directly visualize your nerves and muscles.
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Sweat Testing

People with cystic fibrosis (CF) have more salt (sodium and chloride) in their sweat than other people. Measuring the amount of salt in a person’s sweat is the preferred way to diagnose CF. Sweat testing is painless, fast and reliable.
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There may be other treatments, test, and procedures for this diagnosis, including:

  • Kidney Paired Exchange
  • BRCA Management
  • Prenatal Consultations
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