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Harvey Levy
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Harvey  Levy, MD

Department: Medicine
Research Centers: Genetics Research Center
Hospital Title: Senior Physician in Medicine
Academic Title: Professor of Pediatrics, Harvard Medical School
Research Area: Genetics
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Research Overview

Our major interest is the development of better diagnostic tools and treatments of metabolic diseases.

For the past two decades, we have focused our studies on phenylketonuria (PKU). PKU is a genetic disease in which the body is deficient in an enzyme, phenylalanine hydroxylase (PAH), that breaks down the amino acid phenylalanine. Without a special diet or other intervention within the first months of life, PKU patients can develop serious medical complications, including intellectual disability.

A new treatment for PKU
In an international clinical trial, we have shown that in some patients, BH4 (the natural cofactor of PAH) reduces phenylalanine levels and allows their severe dietary restrictions to be relaxed. The drug, known as Kuvan, is the first and only drug now approved specifically for PKU.

Maternal PKU
Expectant mothers with PKU are at great risk of having children with birth defects or intellectual disability. Scientific studies suggest that if these women go on a special diet, preferably before conception, these risks are severely reduced. In a long-term study, we are monitoring the health and well being of children born to mothers with PKU to determine the extent of these risks and, in the future, to better predict their health outcomes.

In 2008, we joined a national long-term study of the urea cycle disorders, a group of diseases in which toxic levels of ammonia build up in the bloodstream, causing brain damage and death. With new drugs now available to reduce blood ammonia levels, we hope this observational study, which began in 2006, will provide insight on how to most effectively treat these patients.

For more information about this study, click here.

About Harvey Levy

Harvey Levy is a Senior Physician in Medicine at Boston Children's Hospital and a Professor of Pediatrics at Harvard Medical School. He was formerly the Director of the Metabolic Program at Boston Children's Hospital and currently serves as an attending physician within the program.

A strong advocate of the expansion of newborn screening, Levy was instrumental in Massachusetts becoming the first state to include 20 additional metabolic disorders in its newborn screening program. He is currently Chairman of the Standing Committee for the American College of Medical Genetics (ACMG)'s Newborn Screening Translational Research Network (NBSTRN, a five-year, federally sponsored program that aims to better predict the outcomes of children with metabolic disorders identified by newborn screening. He also chairs the Workgroup for ACT Sheets of the ACMG. These sheets inform clinicians about the nature and treatment of the specific metabolic disorder identified.

Levy received his MD from the Medical College of Georgia. He then completed an internship in pediatrics at Boston City Hospital, residencies in pediatric pathology at Columbia-Presbyterian Medical Center, pediatrics at Johns Hopkins Hospital, pediatrics at Boston City Hospital and a research fellowship in metabolic disorders at Massachusetts General Hospital. He is board-certified in Pediatrics, Medical Genetics and Clinical Biochemical Genetics.

Key Publications

  • Trefz FK et al. Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: A phase III, randomized, double-blind, placebo-controlled study. J Pediatr 2009 May; 154(5):700-7.

  • Levy HL et al. Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: A phase III randomized placebo-controlled study. Lancet 2007 Aug 11; 370(9586):504-10.

  • Levy HL et al. Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH4) in phenylaketonuria and its use in treatment. Molec Genet Metab 2007 Dec; 92(4):287-91.

  • James PM and Levy HL. The clinical aspects of newborn screening: importance of newborn screening follow-up. Ment Retard Dev Disabil Res Rev 2006; 12(4):246-54.

  • Lawson-Yuen A and Levy HL. The use of betaine in the treatment of elevated homocysteine. Molec Genet Metab 2006 Jul; 88(3):201-7.

For a complete list of Harvey Levy's publications in PubMed, click here.

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