Doernbecher Children's Hospital

Inherited Metabolic Disorders

A health care provider holds a lemon, a kiwi and an apple.

We provide state-of-the art care for people with inherited metabolic disorders. We offer:

  • The only program in Oregon with complete care for inherited metabolic disorders.
  • Specialists including doctors, nurse practitioners, metabolic dietitians and genetic counselors.
  • A team approach to diagnosis and long-term treatments.
  • A Metabolic Food Room where you can pick up foods and formulas that are part of the treatment for these conditions.

Understanding inherited metabolic disorders

What are inherited metabolic disorders? These genetic conditions cause problems with metabolism of the protein, fat or carbohydrates in our diets and in our bodies. These conditions are rare but come in hundreds of types.

What is metabolism? Metabolism is how our bodies use the protein, fat, carbohydrates and other nutrients in our food and drink for growth and energy. Our bodies do this by making proteins called enzymes. Sometimes we are born with a defective or missing enzyme, which can lead to a metabolic disorder.

Who has metabolic disorders? As a group, inherited metabolic disorders affect about one in 2,000 people. But even the most common types are very rare, affecting about one in 20,000 people. The least common types affect only one or two of every million people.

When someone is found to have an inherited metabolic disorder, family members may need to be tested as well.

What causes metabolic disorders? Most inherited metabolic disorders happen when someone inherits two copies of a gene (one from each parent) that has a change (mutation). Genes with mutations tell the body to make a defective enzyme.

People who inherit a defective gene from one parent and a normal copy from the other parent are known as carriers. They rarely have symptoms.

Symptoms of metabolic disorders

Symptoms can begin before a baby is born or a few weeks after birth. Sometimes symptoms don’t appear until late childhood or adulthood.

With some metabolic disorders, symptoms occur only after a person has certain foods, drinks or medications. Symptoms may also follow minor illnesses or when a person doesn’t eat or drink enough.

Symptoms include:

  • Sleepiness and lack of energy
  • Confusion or abnormal behavior
  • Poor appetite
  • Belly pain
  • Vomiting
  • Jaundice (yellow skin)
  • Not gaining weight or growing
  • Developmental or learning difficulties
  • Seizures
  • Balance or coordination issues
  • Body fluids such as pee, sweat or saliva with an abnormal smell
  • Eye problems

For patients and families

Questions: 503-494-8307


Metabolic Genetics Clinic
OHSU Doernbecher Children’s Hospital, seventh floor
700 S.W. Campus Drive
Portland, OR 97239

Metabolic Food Room
Child Development and Rehabilitation Center
707 S.W. Gaines St.
Portland, OR 97239

Free parking for patients and visitors

Refer a patient

Diagnosing metabolic disorders

Newborn screening

Every U.S. state screens newborns for over 35 conditions. At OHSU Doernbecher Children’s Hospital, newborns who test positive for an inherited metabolic disorder get referred to our metabolic genetics team at OHSU.

Other times, a disorder isn’t diagnosed until symptoms appear.

Metabolic tests

We require a medical provider’s referral to see patients. You or your child may have already seen a specialist, such as a gastroenterologist or endocrinologist, before being referred to us.

To diagnose a metabolic problem, our team:

  • Asks about family history and symptoms.
  • Runs DNA tests on blood or saliva to look for gene abnormalities.

Learn more about what to expect during your visit.

Types of metabolic disorders

Metabolic disorders are grouped by how they affect metabolism. Some disorders affect the body’s ability to use fats for energy. Another group affects how the body breaks down amino acids in protein.

Lysosomes are the recycling centers of our cells. They contain enzymes that break down waste. When a person doesn’t have a certain enzyme, waste can build up. Some common types of disorders we treat include:

  • Mucopolysaccharidoses, a group of disorders
  • Gaucher disease
  • Fabry disease
  • Pompe disease

The most common type is galactosemia, which results when the body can’t break down a type of sugar called galactose. Symptoms include:

  • Jaundice
  • Vomiting
  • Enlarged liver

These disorders result when the body can’t use certain amino acids found in protein. The most common disorder is phenylketonuria (PKU). Others include:

  • Maple syrup urine disease
  • Tyrosinemia
  • Homocystinuria

These disorders affect the body’s ability to use fats for energy. Symptoms can develop after intense exercise or after a person goes a long time without eating.

These disorders affect the body’s ability to turn calories from sugars, fats and proteins into energy. Problems can range from muscle fatigue to learning disabilities.

Treating metabolic disorders

Our approach

These disorders often cannot be cured, so our team focuses on getting a patient’s metabolism as close to normal as possible.

Our providers: Patients may see a doctor, nurse practitioner, nurse, dietitian and genetic counselor. The team meets weekly to discuss our patients’ cases and to coordinate treatment plans.

Specialists: Patients may see other specialists, such as a:

  • Physical therapist, for help with movement
  • Occupational therapist, for help with daily activities
  • Speech-language pathologist, for help communicating
  • Audiologist, for hearing issues
  • Cardiologist, for heart concerns
  • Ophthalmologist, for vision problems


Treatment can be as simple as avoiding certain foods or limiting time between meals. Other treatments include:

  • Diets that limit nutrients the body can’t break down.
  • Enzyme replacement or other supplements to aid metabolism.
  • Medications that help get rid of harmful substances such as ammonia.

In most cases, a person has an inherited metabolic disorder for life. Managing the condition includes:

  • Ongoing evaluation of growth, nutrition and development.
  • Monitoring blood and urine chemistry.

Metabolic Food Room

You can order medical foods and formulas that are part of our treatment from our Metabolic Food Room. You or your child must be up-to-date on clinic visits to use this service.

Medical foods are not sold in grocery stores. Each disorder has different dietary needs.

If you have insurance: Check in advance to see if your insurance will cover medical foods and formulas. Many insurance plans require a recent clinic visit to approve an order. If you have insurance approval before ordering, we can fill your order faster.

If you don’t have insurance: You can:

Getting your order:

  • If you live in the Portland area (Clackamas, Multnomah, Washington and Clark counties): You need to pick up your order at OHSU’s Child Development and Rehabilitation Center. Orders can be picked up 8 a.m.-4 p.m. on Monday, Tuesday or Thursday.
  • If you live outside the Portland metro area and in the continental U.S.: Your order will be shipped. Delivery can take up to 3 weeks. We do not use urgent or express shipping.

Orders should be placed two to three days in advance. You can order:

We may limit how many items each patient can order at once. This is to make sure we have enough for all of our patients. 

We do not accept returns.

More information:

Learn more

Our team

Our specialists are highly trained. They lecture nationally and internationally. Our providers also research new treatments for metabolic disorders, including gene therapy and stem cell therapies.