Biochemical (Metabolic) Genetics

At Riley Hospital for Children at Indiana University Health, our pediatric genetic specialists include physicians who are experts in the diagnosis and treatment of biochemical genetic disorders in children. Our metabolism and genetics specialists also perform nutritional assessments and provide family and genetic counseling, carrier testing and prenatal counseling.

What is a Biochemical Genetic Disorder?

Biochemical genetic disorders are those in which there is an inherited abnormality in the biochemistry of the body. These disorders vary widely and are incurable. Some are associated with mental retardation and other developmental disabilities, and some are life threatening. However, in many cases, early detection and treatment can help prevent some of the most severe effects and can change the natural progression of the disease.

State-of-the-Art Services

Our laboratory is the only one in Indiana to provide the highly specialized technology needed to identify many of these diseases. In addition, our clinic is the only one of its kind in Indiana and one of the largest in the United States. The PKU (Phenylketonuria: a common metabolic disorder) treatment center at Indiana University Medical Center is the only one in Indiana and part of Indiana's mandated newborn screening program, which oversees the testing of all infants for the more common inborn errors of metabolism.

Lifelong Care For Our Patients

Our staff includes physician specialists, nurse specialists, a nutritionist, a social worker and highly trained laboratory technicians. Because our patients' problems are lifelong and treatment is usually complex, we care for each patient throughout life. This care consists of individualized dietary and nutritional management, extensive education and support of the patient and family, and ongoing monitoring.

Family Support and Education

Our staff works closely with each family and the patient’s primary care physician to build a network of resources and support. We provide extensive education for the patient and family about the disorder and its management. We help the family find the special products and supplies needed for treatment, as well as community resources for patients with mental and physical handicaps. Genetic counseling is also provided, and supportive psychological counseling helps the family deal with the emotional and social stress of an inherited disease and its complications.

Promoting Awareness and Education

Since genetic biochemical disorders are rare, most people do not have a basic knowledge of them and many health professionals may not be familiar with the current state-of-the-art therapy for these disorders. Our staff is dedicated to raising awareness and promoting education at every level. In addition to providing extensive education for our patients and their families, we also offer education, technical assistance and educational materials to physicians, healthcare professionals and health organizations throughout the state.

Pediatric Metabolism Clinical Service

Diseases and conditions managed through the biochemical genetics program at Riley Hospital for Children at IU Health include (but are not limited to) the following:

  • Phenylketonuria (PKU) and other amino acid disorders
  • Hyperammonemias
  • Organic acidopathies
  • Galactosemia
  • Glycogen storage diseases
  • Lysosomal storage disorders
  • Tay-Sachs disease
  • Hurlers syndrome
  • Hyperlipoproteinemias
  • Carnitine deficiency disorders

For More Information

Our patients are referred by their primary care physician or another healthcare professional. We encourage families who suspect a problem to first see their child's own physician for evaluation. For more information about our services, or to arrange for a consultation or referral, please call 317.274.3966 or fax 317.278.0936.

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