Our Services

Inborn Errors of Metabolism Clinic

The large number of inborn errors of metabolism, the complexity of these disorders and the wide variety of symptoms present a serious challenge to even the most highly trained and experienced pediatrician. Recognizing this need, Children’s Hospital of Pittsburgh established a specialized program within the Division of Medical Genetics devoted to addressing inborn errors of metabolism, which are inherited disorders caused by a defect in a single gene. These include organic acidurias, fatty acid oxidation defects, urea cycle disorders, mitochondrial disease, and galactosemia, among others.

Hundreds of inborn errors of metabolism make it impossible to precisely determine how many people are affected by these disorders. However, it is estimated that inborn errors of metabolism affect about two-to-three of every 1,000 babies born. Many of the inborn errors of metabolism can be treated effectively, particularly when they are diagnosed and treated early.

The Inborn Errors of Metabolism Clinic at Children’s Hospital provides diagnostic services, evaluation, treatment, management, genetic counseling and support services to children with these disorders and their families. A Phenylketonuria (PKU) Clinic specializes in the diagnosis, treatment and management of one of the most common inborn errors of metabolism.

Some inborn errors of metabolism are detected during standard or expanded newborn screening. Evidence of a metabolic disorder revealed in other tests or examinations, concern within families with a history of genetic abnormalities and recommendations from support groups also account for referrals to the Inborn Errors of Metabolism Clinic.

The clinic provides the latest diagnostic tests to help physician geneticists identify or confirm the presence of a specific disorder. Confirmed cases are evaluated by experienced faculty and staff and treatment is prescribed. In cases for which no treatment is available, the clinic staff helps patient and family manage the complications of the disorder and provides genetic counseling.

Clinic staff members are available to help patients and families manage therapy once it is prescribed and address complications that may arise. A metabolic dietitian provides help in managing the very strict diets many treatable disorders require. Genetic counseling is available to help families understand specific genetic disorders and their consequences and to offer supportive counseling. The clinic is also staffed by a nurse practitioner and social worker trained to address the medical, management and social needs of patients and their families.

Phenylketonuria Clinic

The Phenylketonuria (PKU) Clinic provides diagnosis, treatment, management and counseling to patients with PKU, one of the most common inherited inborn errors of metabolism.

The most common form of PKU results from the absence of a single enzyme, phenylalanine hydroxylase and is the most common known inborn error of metabolism. Other more rare forms of the disease relate to genetic defects in the metabolism of tetrahydrobiopterin, a compound essential for phenylalanine hydroxylase activity. Early detection and treatment is critical for patients with this disorder. When treatment for PKU is started within the first few weeks of life, adverse outcomes such as mental retardation and other neurological problems can often be avoided.

The PKU Clinic provides the latest diagnostic tests and the physicians and staff necessary to confirm the disorder, treat it effectively and provide support to the patients and their families. Manipulating the patient’s diet is the primary treatment for PKU. The clinic’s experienced physicians and staff evaluate each patient to determine the appropriate diet and offer patients and families support in maintaining the specialized diet that is prescribed. Genetic counselors help families understand PKU and its consequences and offer supportive counseling. Patients also have the option of participating in clinical trials of innovative technologies designed to eliminate the need for on-going dietary restrictions.

Last Update
April 5, 2010
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Last Update
April 5, 2010
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