How We Can Help
Metabolic Disorders/PKU Treatment Information
Those living with a metabolic disorder can lead normal, healthy lives if they stay on track and tightly control their nutritional intake.
Treatment options include:
- Genetic counseling. When your newborn baby is diagnosed with a metabolic disorder, our genetic counselors help you understand the condition, its lifelong implications and how it will affect your child as he or she matures. Our counselors spend time making sure all of your questions are answered.
- Nutrition. Specialized or restrictive diets are often a key treatment for metabolic disorders. Our dietitians are very experienced in managing PKU, galactosemia and other metabolic conditions. The nutrition experts meet with you regularly to ensure that you or your child’s health is being monitored correctly. Dietitians teach you how to take a proper blood dot for routine metabolic and blood tests. Every time test results are submitted, our dietitians review them and talk with you. We make adjustments in diet, supplements and formula as needed to accommodate your child’s growth.
- Special diets. Some metabolic conditions require expensive foods. People with PKU must eat low-protein diets. The specific diet depends on how much enzyme function is present in each person. A special formula supplement must be taken three to four times a day. As a child grows, it becomes more difficult for them to eat enough to feel full. Our PKU treatment center works with you to access special foods.
- Medicine. There is a medicine available for PKU patients to help their bodies make the most use of remaining enzyme function that breaks down the phenylalanine in protein. This medicine is not an enzyme replacement, but it changes the shape of an enzyme to make it work properly. For PKU patients with certain remaining levels of enzyme function, this medicine removes the need for formula, improves mental focus and helps with an overall feeling of well-being.
- Research. Our physicians and researchers are doing research into the causes of and treatments for metabolic disorders. We are the only center in Indiana conducting active research on PKU. Two clinical trials now underway are studying the effects of medicines used to treat PKU. One study monitors the neurocognitive (reduction in cognitive function) improvements of medical PKU management. Another is testing a substitute enzyme replacement therapy for PKU.
Metabolic Disorders/PKU Locations & Physicians
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Metabolic Disorders/PKU Support Services
Learn more about PKU and metabolic disorders treatments at these websites:
A Sampling of Metabolic Disorders/PKU Support Services
Indiana PKU & Allied Disorders Association
This state chapter of the National PKU Alliance provides information, support and updates for people and families living with PKU.
National PKU News
This site provides updates on treatments and research for PKU.
Genetics Home Reference
This website provides extensive information for genetic conditions including PKU and galactosemia from the National Library of Medicine, the National Institutes of Health and other U.S. government agencies.