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The Inborn Errors of Metabolism Clinic is in the Division of Genetics and Genomic Medicine. Inborn errors of metabolism are a group of genetic disorders. They disrupt how the body breaks down nutrients and makes energy.
This clinic at UPMC Children's Hospital of Pittsburgh cares for kids and families with known or suspected inborn errors of metabolism.
To these people, the clinic offers:
Our clinic's doctors have advanced training in inborn errors of metabolism. They'll examine you or your child. You'll also visit with other members of the team, including:
Reasons to visit the Inborn Errors of Metabolism Clinic may include, but are not limited to:
UPMC Children's has a team of highly trained doctors and staff. They are experts in diagnosing and treating inborn errors of metabolism. Our experts also have expertise in other metabolic diseases.
These include:
See below for more information about these conditions.
The Inborn Errors of Metabolism Program at UPMC Children's Hospital also gives the people we treat access to research. We offer on-site clinical trials to children and adults. The people we treat can take part in new treatments and technologies.
Find out more about our current research programs.
Doctors can effectively treat many inborn errors of metabolism. This is especially true when doctors diagnose and treat them early. Pennsylvania's standard and expanded newborn screening (NBS) panels detect many of these diseases.
UPMC Children's Hospital of Pittsburgh is the newborn screening referral center for all babies born in Western PA. This state-mandated program requires follow-up for all abnormal NBS results. Families must plan a visit with an expert at caring for children with metabolic diseases.
Learn more about this essential public health initiative.
The Phenylketonuria (PKU) program cares for people with PKU. It provides:
PKU is one of the most common inherited inborn errors of metabolism. PKU is a disease that prevents the body from properly breaking down a part of proteins called phenylalanine. When phenylalanine is not broken down, it builds up.
The buildup causes:
Treatment of PKU prevents these problems. Starting PKU treatment within the first few weeks of life can avoid them entirely.
Without treatment, the child will show the effects of PKU at a few months old. Early detection and treatment is critical for this disorder. Our expert doctors and staff manage a unique diet to treat people with PKU.
Learn more about PKU.
Fatty acid oxidation disorders (FAOD) are genetic conditions. They affect how the body uses fats for energy. Fatty acids are the building blocks of fat.
Enzymes help the body convert fat into fatty acids and then into energy. A specific enzyme allows the body to use stored fat for energy. In people with a FAOD, this enzyme is missing or not working.
When the body can't use fat for energy as it should, levels of fatty acids build up in the organs. Children with FAODs may have drowsiness, vomiting, poor feeding, and low blood sugar. They can also develop muscle, heart, or liver disease.
Treatments for FAOD can help to reduce or avoid these symptoms. Learn more about FAOD.
Urea cycle disorders (UCD) are genetic conditions. They affect how the body removes ammonia. Proteins break down in the body to produce ammonia, a toxic substance.
They call the process of removing ammonia the "urea cycle." Typically, enzymes in the liver help the body convert ammonia to urea. The body excretes urea, a harmless substance, in urine.
In people with UCD, one of these enzymes is missing or not working. People with UCD develop high levels of ammonia. This causes brain damage and other serious problems.
Treatments for UCD reduce ammonia in the blood to help avoid these health problems. Learn more about UCD.
Pyruvate dehydrogenase complex deficiency (PDCD) is a genetic mitochondrial disorder. It affects the body's use of carbohydrates. Children with PDCD develop high levels of lactic acid.
They can have various neurologic problems. These include:
Treatments for PDCD help to manage neurologic symptoms such as seizures.
Congenital disorders of glycosylation (CDG) are a group of over 100 inherited conditions. Individuals with CDG have a problem with attaching sugar molecules to proteins. This process, called glycosylation, is complex.
It doesn't work correctly. When glycosylation does not occur, protein cannot do their job correctly. This causes various symptoms that can affect any part of the body.
Symptoms vary depending on the type of CDG. They can include:
A geneticist will help to guide the diagnosis and care of your child's unique needs.
To schedule a genetics appointment or consultation, please call 412-692-5070.
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh One Children’s Hospital Way 4401 Penn Ave. Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
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Interested in giving to Children's Hospital? Support the hospital by making a donation online, joining our Heroes in Healing monthly donor program, or visiting our site to learn about the other ways you can give back.