Metabolism refers to the chemical reactions in your body’s cells that change the food we eat into the chemical compounds that keep us alive. A metabolic disorder occurs when abnormal chemical reactions disrupt the normal metabolic processes.
There are many different types of metabolic disorders, but most are very rare. The most common metabolic condition is phenylketonuria (PKU). Other examples include galactosemia, medium chain acyl-coA dehydrogenase deficiency (MCAD), Prader-Willi syndrome and other disorders of fatty acid utilization.
Metabolic disorders can affect the utilization of protein, fat or carbohydrates or a combination of these. Most are inherited genetic conditions. Metabolic disorders are lifelong conditions, but in general, early treatment can alter their natural progression.
If your child has a metabolic disorder, symptoms may appear only a few days after birth, or they could take years to develop (this is rare). Symptoms may not be evident until the body is stressed by illness or fasting.
The symptoms of metabolic disorders may include:
- Abnormal odor of breath, sweat and urine
Somnolence (excessive sleepiness)- Developmental delay
- Failure to thrive (in infants)
- Jaundice
- Lethargy
- Poor appetite
- Seizures
- Vomiting
Diagnosis of Metabolic Disorders
Some metabolic conditions are identified within a few days of a child’s birth through newborn screening tests. These tests use a blood sample to check for treatable disorders, including some metabolic, endocrine, hematologic and respiratory disorders that may not be immediately apparent. If your child’s test shows any abnormal results for the metabolic screening, he or she will need to be evaluated by a doctor within five to seven days.
Treatments
Treatments
Most treatable metabolic conditions require special diets to ensure proper health and prevent complications. If your child has a metabolic disorder, he or she may be able to lead a normal, healthy life if diet is carefully controlled.
Treatment options include:
- Pediatric Genetic Counseling. If your newborn is diagnosed with a metabolic disorder, a genetic counselor can help you understand the condition, its lifelong implications and how it will affect your child as he or she matures.
- Nutrition. Specialized or restrictive diets are often a key treatment for metabolic disorders.
- Special formulas. Some metabolic conditions require lifelong use of special formulas. Your child's care team will work with you to access these nutritional sources.
- Medicine. In addition to diet, patients with certain metabolic conditions may also benefit from medications or specific supplements. Your child's doctor will discuss these options with you and help determine the best course of treatment.
Key Points to Remember
Key Points to Remember
- A metabolic disorder occurs when abnormal chemical reactions disrupt the normal metabolic processes.
- Most metabolic disorders are inherited conditions.
- The most common metabolic condition is phenylketonuria (PKU).
- Treatment for metabolic disorders may include genetic counseling, help with nutrition and diet and medicines.
Support Services & Resources
Support Services & Resources
Learn more about how metabolic disorders are diagnosed and treated by visiting the trusted websites below.
Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.
This online resource from the U.S. National Library of Medicine provides more information on phenylketonuria (PKU).
Learn more about the diagnosis and treatment of galactosemia.
Read more about MCAD.
Learn more about how Prader-Willi syndrome is diagnosed and managed.
The Indiana state chapter of the National PKU Alliance provides information, support and updates for children and families living with PKU.
The Prader-Willi Syndrome Association offers educational information and support for individuals and families living with Prader-Willi syndrome.
Metabolic Disorders Research
Metabolic Disorders Research
In partnership with the Indiana University School of Medicine, the doctors and researchers at Riley at IU Health are conducting research into the causes of and treatments for metabolic disorders. We are the only center in Indiana conducting active research on phenylketonuria, including clinical trials to study the effects of medicines used to treat the condition.
Locations
Locations
Locations
In addition to our primary hospital location at the Academic Health Center in Indianapolis, IN, we have convenient locations to better serve our communities throughout the state.
Sort through 5 facilities offering Metabolic Disorders care by entering your city or zip below.