Nicola Longo, MD, Ph.D.

Chief, Division of Medical Genetics
Director, Metabolic Service
Co-Director, Biochemical Genetics Laboratory, ARUP Laboratories
Director, Fellowship Training Program in Biochemical Genetics

Eccles Primary Children's Outpatient Services
81 North Mario Capecchi Drive
Salt Lake City, UT 84113
contact address


Nicola Longo MD, Ph.D. is a professor of Pediatrics, adjunct professor of Pathology, and Adjunct Professor of Nutrition and Integrative Physiology at the University of Utah School of Medicine. Dr. Longo earned his M.D. and Ph.D. in Molecular Biology at the University of Parma School of Medicine in Italy. He received residency and fellowship training in pediatrics, medical genetics, and clinical biochemical genetics at Emory University in Atlanta, Georgia. He joined the University of Utah in 2001 and is now the Director of the Metabolic Service, Co-Director of the biochemical Genetics laboratory at ARUP, Director of the Fellowship Training Program in Medical Biochemical Genetics, and Chief of the Division of Medical Genetics. He is an expert in inherited metabolic diseases and is intimately involved in the treatment of patients with these diseases at Primary Children’s Medical Center. His basic and clinic research covers disorders of fatty acid oxidation and carnitine metabolism and the development of novel treatments for metabolic disorders including phenylketonuria, organic acidemias, urea cycle disorders, and lysosomal storage disorders.

Selected Bibliography:

Burton BK, Longo N, Vockley J, Grange DK, Harding CO, Decker C, Li M, Lau K, Rosen O, Larimore K, Thomas J.
Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up.
Mol Genet Metab. 2020;130(4):239-246. PubMed abstract

Longo N, Dimmock D, Levy H, Viau K, Bausell H, Bilder DA, Burton B, Gross C, Northrup H, Rohr F, Sacharow S, Sanchez-Valle A, Stuy M, Thomas J, Vockley J, Zori R, Harding CO.
Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria.
Genet Med. 2019;21(8):1851-1867. PubMed abstract / Full Text

De Biase I, Gherasim C, La'ulu SL, Asamoah A, Longo N, Yuzyuk T.
Laboratory evaluation of homocysteine remethylation disorders and classic homocystinuria: Long-term follow-up using a cohort of 123 patients.
Clin Chim Acta. 2020;509:126-134. PubMed abstract

Longo N, Arnold GL, Pridjian G, Enns GM, Ficicioglu C, Parker S, Cohen-Pfeffer JL.
Long-term safety and efficacy of sapropterin: the PKUDOS registry experience.
Mol Genet Metab. 2015;114(4):557-63. PubMed abstract

Longo N, Harding CO, Burton BK, Grange DK, Vockley J, Wasserstein M, Rice GM, Dorenbaum A, Neuenburg JK, Musson DG, Gu Z, Sile S.
Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial.
Lancet. 2014;384(9937):37-44. PubMed abstract / Full Text