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University of Nebraska Medical Center

Biochemical/Metabolic Clinic

an adult hand gently holding the hand of an infant

A specialized clinic for the evaluation and treatment of suspected or confirmed inherited biochemical or metabolic diseases.

The Biochemical/Metabolic Genetics Clinic cares for children and adults. The team directs and interprets a wide range of specialized, laboratory biochemical genetic analyses relevant to the diagnosis and management of inherited metabolic disorders.

A proper diagnosis is critical to properly treat the disease. Inherited metabolic diseases are lifelong conditions that require lifelong treatment.

Without effective treatment, these diseases can lead to permanent symptoms. Symptoms may be progressive. Treatment may involve something as simple as changes in diet, dietary supplements, medications, or combination of these approaches.

Specialty Care

Both UNMC’s Munroe-Meyer Institute and Children’s Nebraska have clinics led by board-certified medical biochemical geneticists with cross-collaboration.

  • This health care team is led by physicians board certified in medical biochemical genetics and also includes dietitians with specialized training in inherited metabolic disorders and a nurse practitioner. The health care teams include dietitians with specialized training in inherited metabolic disorders.
    • On-call physician coverage is available for emergent concerns related to inherited metabolic disease.
  • Nursing support is provided based on clinic location.
  • Patients and families meet with a genetic counselor from MMI's Department of Genetic Medicine.

Clinic Details

  • Abnormal imaging studies or biopsies suggestive of an inherited metabolic disorder.
  • Abnormal newborn screen results.
  • Known inherited metabolic disorder diagnosis.
  • Lab abnormalities suggestive of an inherited metabolic disorder (e.g. acylcarnitine profile, urine organic acids, plasma amino acids, etc.).
  • Regression / unexplained loss of skills.
  • Unexplained seizures, episodes of vomiting, food aversions.

A typical clinic evaluation takes a few hours. Diagnosis may be difficult because of the number of inherited metabolic diseases, their individual rarity and varying symptoms, and wide range of body systems affected.

Diagnosis involves specialized medical testing and a process of elimination to rule out other possible conditions first. Our clinics use a variety of advanced tests that are sent to specialized labs to screen for abnormalities that would indicate a metabolic disorder.

Providers from the Munroe-Meyer Institute Department of Genetic Medicine include:

This clinic has two locations.

  1. Munroe-Meyer Institute
    Biochemical Genetics Clinic
    6902 Pine St.
    Omaha, NE 68106
    View location and map

    Call for an appointment: 402-559-6418
    View all scheduling options
  2. Children’s Nebraska
    111 N. 84th St.
    Omaha, NE 68114
    View clinic webpage

    Call for an appointment: 402-955-4199