Doernbecher Children's Hospital

Doernbecher Children's Hospital

Inherited Metabolic Disorders

A young girl bites into an apple she’s holding with both hands.

OHSU Doernbecher Children’s Hospital provides state-of-the art care for people with inherited metabolic disorders. We offer:

  • The only program in Oregon with full care for inherited metabolic disorders
  • Specialists who include doctors, nurse practitioners, metabolic dietitians and genetic counselors
  • A team approach to diagnosis and long-term treatment
  • A Metabolic Food Room with foods and formulas for these conditions

Understanding inherited metabolic disorders

Metabolism is the set of chemical reactions that turn food into energy inside our bodies.  These reactions rely on enzymes that our bodies make. If an enzyme is missing or doesn’t work properly, that can lead to a metabolic disorder. The disorder may cause problems with metabolizing protein, fat or carbohydrates.

Inherited metabolic disorders are genetic conditions. When someone is diagnosed with one, family members may need to be tested.

As a group, inherited metabolic disorders affect about one in 2,000 people. But single types of metabolic disorders are rare. The most common types affect about 1 in 20,000 people. The least common types affect 1 or 2 of every million people.

Most inherited metabolic disorders happen when someone inherits a gene that has changed.

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.

Lysosomal storage disorders

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

Disorders of carbohydrate metabolism

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

Disorders of amino acid metabolism

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

Fatty acid oxidation disorders

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.

Disorders of energy metabolism

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.

Symptoms of metabolic disorders

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

With some metabolic disorders, symptoms occur only with certain foods, drinks or medications. Symptoms may also follow minor illness or when a child doesn’t eat or drink enough.

Key symptoms include:

  • Sleepiness and lack of energy
  • Confusion or abnormal behavior
  • Poor appetite
  • Vomiting
  • Jaundice (yellow skin)
  • Not gaining weight or growing
  • Seizures

Diagnosing metabolic disorders

Symptoms: Some disorders are diagnosed when symptoms appear.

Newborn screening: Every U.S. state tests new babies for inherited metabolic disorders. The types tested for depend on which state a baby is born in. At Doernbecher, babies who test positive are referred to OHSU's metabolic genetics team.

DNA tests: Your doctor or your child’s doctor may refer you to us to confirm a diagnosis. We will do DNA tests on blood or saliva. Learn what else to expect during your visit.

Treating inherited metabolic disorders

Inherited metabolic disorders often can’t be cured. In most cases, people have them for life. We focus on getting metabolism as close to normal as possible.

Our team meets weekly to discuss patients’ cases and coordinate treatment plans. Each patient may see a doctor, nurse practitioner, nurse, dietitian and genetic counselor. We regularly check each patient’s growth, nutrition and development.

Patients may also see 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 include:

  • Avoiding certain foods or limiting time between meals
  • Diets that limit nutrients the body can’t break down
  • Enzyme replacement or other supplements to help with metabolism
  • Medications that help the body get rid of certain substances

Metabolic Food Room

The OHSU Metabolic Food Room provides medical foods and formulas for patients with inherited metabolic disorders.

To order food or formula, you or your child must be up to date on clinic visits. Many insurers require a recent clinic visit to approve an order. If you or your child has not seen us in the last 12 months, please call us at 503-494-8307. In some cases we can take an order if you have a scheduled appointment.

If you live in the Portland area (Multnomah, Clackamas, Washington and Clark counties), you can pick up your order. If you live outside the area and are in the continental United States, we can ship your order.

Insurance

Most insurance plans that cover medical food and formula require advance approval. If we don’t have this approval, you may be billed or have your order delayed.

If your insurance has changed since your last order, please call us at 503-494-8307.

Medicare and some employer plans don’t cover medical food or formula. It’s best to check with your plan about your coverage.

If you’re shopping for insurance, ask the insurer:

  • If CPT code S9435 (medical foods for inborn errors of metabolism) is a covered benefit under your plan for your diagnosis. You can ask us for your diagnosis code.
  • What your deductible and out-of-pocket costs will be for medical food or formula
  • If you’ll have a copay for medical food or formula

If your insurance doesn’t cover medical food or formula, you can:

Ordering

It’s best to order through MyChart. You can also order by phone at 503-418-1814. We don’t take email orders.

For MyChart orders:

  • Open the Messages tab.
  • Choose “send a non-urgent medical question.”
  • Choose “other question.”
  • Choose our dietitian or another member of the metabolic disorders team. [link to team section below]
  • In the subject line, please write whether you are placing a food order, formula order or both. Include “urgent” if needed.
  • In your message, please tell us:
    • Formula or food items needed, number of items, flavors and other details
    • If you’re ordering formula: How many days of formula you have at home
    • Your shipping address
    • Your insurance company and policy number
    • Note: We need all this information in each order.

If you order through MyChart:

  • By 1 p.m. on a weekday: We will try to fill the order that day.
  • After 1 p.m. or on a weekend: We will fill your order on the next business day.

Pickup

It’s best to pick up your order if you live in Multnomah, Washington, Clackamas or Clark County.

You can pick up:

  • Tuesday between 8 a.m. and 4 p.m.
  • Monday, Wednesday, Thursday or Friday with at least three hours’ notice. Please also confirm in advance with our team. This is to make sure your order is ready when you arrive.

We may limit how many items you can take. This is to make sure all patients have enough.

Please wait for a member of our team before you enter the Food Room.

Shipping

You can ask us to ship your order the day you place it. You’ll need to order before 1 p.m. and provide current insurance information.

Orders usually arrive in three days. If your order comes directly from the manufacturer, it can take up to three weeks to arrive. You can ask us for a tracking number.

If your order is late, please call us at 503-494-8307.

We cannot ship:

  • By urgent or express shipping
  • Outside the continental U.S. If you plan to travel outside the continental U.S., please tell us in advance so we can make sure you’ll have what you need.

Damaged items

If an item is damaged, please call us at 503-494-8307. We can’t take returns.

Learn more

Resources

Inherited Metabolic Disorders Team

For patients and families

You’ll need a provider’s referral to see us.

Questions: 503-494-8307

Locations

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., Room 1131
Portland, OR 97239

Free parking for patients and visitors

Refer a patient