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The Dr. Harvey Levy Program for Phenylketonuria and Related Conditions brings a variety of specialists together to care for children and adults with metabolic disorders affecting amino acid metabolism. These conditions are typically caused by deficiencies in enzymes that help break down certain proteins or amino acids. This can lead to a buildup of potentially harmful substances or a lack of building blocks needed for normal cellular functions.

The conditions we treat include:

  • Phenylketonuria (PKU), in which the body cannot metabolize the amino acid phenylalanine
  • Homocystinuria (HCU), in which the body is unable to process the amino acid methionine, leading to excess homocysteine in the urine and blood
  • Maple syrup urine disease (MSUD), in which the body cannot break down leucine, isoleucine, and valine
  • Tyrosinemia, in which the body lacks the enzyme needed to break down the amino acid tyrosine
  • Related cofactor disorders

If untreated, these conditions can cause serious complications such as developmental delay, intellectual disability, psychological complications, liver disease, stroke, and acute toxicity to the brain. Fortunately, they are all treatable, and the majority are now diagnosed by newborn screening, which can allow children to thrive developmentally and live more typical lives.

How we treat PKU and related metabolic disorders

The Dr. Harvey Levy Program for Phenylketonuria and Related Conditions offers integrated, individualized care for PKU and related conditions. Our care team includes world-renowned specialists in Genetics, Metabolism, Nutrition, and Psychology, drawing in other specialties as required.

In addition to standard-of-care treatments that Boston Children’s has long provided, we offer access to clinical trials of new and emerging therapies such as enzyme therapies. We are actively involved in many clinical trials, and we have close ties with advocacy and support groups with whom we can connect families. See our Family Resources page.

Program history

The Dr. Harvey Levy Program for Phenylketonuria and Related Conditions is part of the Metabolism Program at Boston Children’s. An outgrowth of the original PKU program established in 1960s — the first such program in the world — it was named to honor the contributions of Harvey Levy, MD, a pioneer in newborn screening and the treatment of metabolic conditions. Through Dr. Levy’s work at Boston Children’s Hospital, Massachusetts was the first state to offer newborn screening for phenylketonuria in 1962, and one of the first states to screen for homocystinuria and maple syrup urine disease. His work also underpins our understanding of maternal PKU, leading to improved pregnancy outcomes.