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Metabolic Disorders/PKU

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—some affect protein metabolism and others affect carbohydrates or fats, or combinations of these molecules. Most are inherited genetic conditions. Metabolic disorders are lifelong diseases, but many times early treatment can alter their natural progression.

There are thousands of inherited metabolic diseases. A few examples include:

  • Tay Sachs
  • Wilson’s disease
  • Phenylketonuria (PKU)
  • Galactosemia

Some metabolic conditions are identified within a few days of a child’s birth through newborn screening tests. These tests use a blood sample from the newborn’s heel to check for treatable disorders that may not be immediately apparent. The most common metabolic condition is phenylketonuria (PKU). Galactosemia is another disorder included in newborn screening exams. There are many other metabolic disorders, but most are rare.

It is important for any infant with an abnormal metabolic screening result to be further evaluated clinically within five to seven days. Most treatable metabolic conditions require special diets to ensure proper health and prevent complications.

Phenylketonuria (PKU)

PKU is caused by a deficiency in an enzyme called phenylalanine hydroxylase. This enzyme helps your body break down and use the phenylalanine found in protein to make tyrosine, which then makes neurotransmitters. Phenylalanine is an essential amino acid needed for building other proteins. When your body cannot utilize phenylalanine in the normal way, this amino acid will accumulate in your blood and brain, and cause serious damage.

If untreated, PKU will lead to:

  • Developmental delays
  • Intellectual disabilities
  • Seizures
  • Behavioral problems
  • Growth impairment

To protect the body’s systems, children and adults with PKU must follow a special restricted-protein diet. Instead of natural protein, the patient will be given a prescription formula for incomplete protein supplementation that has all necessary amino acids except phenylalanine. Those with PKU must have some phenylalanine for their bodies to function properly, and they check their blood for phenylalanine levels.


Galactosemia occurs when there is a shortage of one of three enzymes needed to break down galactose, a component of lactose, a sugar found in milk. When milk consumption begins, babies become ill with vomiting, jaundice, lethargy and sepsis—which can be fatal. Liver and renal failure can also occur.

If left untreated, or partially treated, galactosemia may have serious complications, including:

  • Failure to thrive
  • Jaundice
  • Cataracts
  • Hypoglycemia
  • Sepsis

Babies, children and adults with galactosemia must avoid milk and all dairy products from milk in their diets. Dietary restrictions should begin as soon as possible. Galactosemia occurs in one in every 30,000 to 60,000 births.

Our affiliation with the Riley Hospital for Children Biochemical Genetics Program at Indiana University Health gives us access to the only lab in the state equipped with advanced technology used to identify metabolic conditions.

In addition, our partnership with IU School of Medicine and specialists in clinical and biochemical genetics allows patients and families to receive services from genetics clinics. This collaborative relationship also gives us access to the latest research and treatments for inborn errors of metabolism.

At the PKU treatment center, the only one of its kind in the state, physicians, dietitians, social workers and counselors work closely with you and your family to assist you in managing this complicated and costly disease. We utilize grant programs to ensure PKU patients have access to the food and formula they need to thrive. We help you adjust the levels of phenylalanine in you or your child’s diet to maximize health and growth through maturity. If appropriate, we prescribe medicines specifically designed to boost PKU enzyme function.

At Indiana University Health, we are the Indiana leader in newborn screening, and we treat a large variety of metabolic disorders in both adults and children from the state of Indiana. Our Newborn Screening programs work with our metabolic faculty and nutrition specialists to quickly identify newborns with these conditions. We work with you and your primary care physicians to design an appropriate treatment plan. We educate our families about the disease and its genetic basis, and its treatment. We provide continuing long-term care and support in managing these chronic diseases. It is important for our families to be knowledgeable about their disease, and what they must do to monitor levels to keep their child or spouse as healthy as possible between clinic visits.

How We Can Help

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:

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: