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.

Disclosure of interests on file (09/22/2022)

Selected Bibliography:

Häberle J, Moore MB, Haskins N, Rüfenacht V, Rokicki D, Rubio-Gozalbo E, Tuchman M, Longo N, Yandell M, Andrews A, AhMew N, Caldovic L.
Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.
Hum Mutat. 2021;42(12):1624-1636. PubMed abstract / Full Text

Ingoglia F, Chong JL, Pasquali M, Longo N.
Creatine metabolism in patients with urea cycle disorders.
Mol Genet Metab Rep. 2021;29:100791. PubMed abstract / Full Text

Hart K, Rohrwasser A, Wallis H, Golsan H, Shao J, Anderson T, Wang X, Szabo-Fresnais N, Morrissey M, Kay DM, Wojcik M, Galvin-Parton PA, Longo N, Caggana M, Pasquali M.
Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency.
Mol Genet Metab. 2021;134(1-2):60-64. PubMed abstract

van Spronsen FJ, Blau N, Harding C, Burlina A, Longo N, Bosch AM.
Nat Rev Dis Primers. 2021;7(1):36. PubMed abstract / Full Text

Waisbren S, Burton BK, Feigenbaum A, Konczal LL, Lilienstein J, McCandless SE, Rowell R, Sanchez-Valle A, Whitehall KB, Longo N.
Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis.
Mol Genet Metab. 2021;132(2):119-127. PubMed abstract / Full Text