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

Division of Genetics
Department of Pediatrics
University of Utah Health Sciences Center
50 N. Medical Drive
Salt Lake City, UT 84132
contact address


Nicola Longo MD PhD is a professor of pediatrics and adjunct professor of pathology at the University of Utah School of Medicine. Born and educated in Italy, Dr. Longo earned his M.D. and Ph.D. in molecular biology at the University of Parma School of Medicine. 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 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, and lysosomal storage disorders.

Selected Bibliography:

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

Blau N, Longo N.
Alternative therapies to address the unmet medical needs of patients with phenylketonuria.
Expert Opin Pharmacother. 2015;16(6):791-800. PubMed abstract

Longo N, Siriwardena K, Feigenbaum A, Dimmock D, Burton BK, Stockler S, Waisbren S, Lang W, Jurecki E, Zhang C, Prasad S.
Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy.
Genet Med. 2015;17(5):365-73. PubMed abstract

Greene CL, Longo N.
National Institutes of Health (NIH) review of evidence in phenylalanine hydroxylase deficiency (phenylketonuria) and recommendations/guidelines for therapy from the American College of Medical Genetics (ACMG) and Genetics Metabolic Dietitians International (GMDI).
Mol Genet Metab. 2014;112(2):85-6. PubMed abstract