Inborn Errors of Metabolism Clinic

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:

• Diagnosis.
• Treatment.
• Management.
• Counseling.

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:

• Developmental delay.
• Intellectual disability.
• Behavioral issues.
• Mental health problems.

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:

• Intellectual disability.
• Seizures.
• Weak muscle tone.
• Poor coordination.
• Difficulty walking.
• Abnormal brain structure.

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:

• Developmental delay.
• Muscle weakness.
• Vision problems.
• Growth problems.
• Liver disease.
• Heart disease.
• Bone disease.
• Gastrointestinal problems.
• Seizures.
• Movement or coordination problems.
• Nerve problems.

A geneticist will help to guide the diagnosis and care of your child's unique needs.