Dr. Harvey Levy Program for Phenylketonuria and Related Conditions

The Harvey Levy Program for Phenylketonuria and Related Conditions is a multidisciplinary, patient-centered program for children and adults with metabolic disorders affecting amino acid metabolism. These conditions are typically caused by enzymes that help to break down protein, which can lead to a buildup of potentially harmful substances, and sometimes a lack of building blocks needed for normal cellular functions. Symptoms in the untreated state may include developmental delay, intellectual disability, psychological disorders, liver disease, and stroke. These conditions are treatable, and the majority of them are diagnosed by newborn screening, which can allow people to live more normal lives.

These conditions include:

phenylketonuria
homocystinuria
maple syrup urine disease
tyrosinemia
related cofactor disorders

The treatment of metabolic conditions included in this program has been historically provided here at Boston Children’s Hospital. Available therapies are now expanding to include novel and highly impactful therapies such as enzyme substitution therapy.

Program designation was awarded in 2019, and named to honor the contributions of Boston Children’s Hospital’s own metabolic disease and newborn screening pioneer, Dr. Harvey Levy. Through the work of Dr. Levy, Massachusetts was the first state to offer newborn screening for phenylketonuria in 1962, and one of the first to screen for homocystinuria and maple syrup urine disease. Much of his early work helped to understand maternal PKU, leading to improved pregnancy outcomes. In the early days of newborn screening, Dr. Levy had been the director of the Massachusetts Metabolic Disorders Program and later the chief of biochemical genetics in the New England Newborn Screening Program. Dr. Levy served on numerous local, regional, and U.S. national committees and task forces on newborn screening and metabolic disorders. He has been active in many professional societies, notably the Society for Inherited Metabolic Disorders as director-at-large and president. Dr. Levy’s scientific career has focused on the clinical follow-up of inborn errors identified by newborn screening as well as the evaluation of newborn screening methods. In the more recent years Dr. Levy had been involved in the efforts to expand newborn screening by tandem mass spectrometry. Dr. Levy currently directs a clinical research group that is studying the effect of innovative therapies for phenylketonuria and homocystinuria. He has been the (co-)author of more than 200 scientific papers.

Why Boston Children’s Hospital?

The Metabolism Program at Boston Children’s has been caring for patients with all metabolic diseases since 1978. We see patients of all ages, from newborns to older adults. We offer integrated, individualized, multidisciplinary inpatient and outpatient care for these conditions, including access to world renowned specialists in Genetics, Metabolism, Nutrition, and Psychology, with the option of further services through Boston Children’s as required.

We offer access to the clinical trials of the latest drugs, and have experience with managing emerging therapies due to our trial participation. Our team maintains close ties with support groups and patient advocacy groups that provide families facing similar challenges with additional support and helpful educational information.

Research on phenylketonuria and homocystinuria (HCU)

The Dr. Harvey Levy Program for Phenylketonuria and Related Conditions is conducting research to advance our understanding of the mechanisms of PKU and HCU.

Ongoing clinical trials:

Completed clinical trials: