Nicola Longo

Nicola Longo, MD, PhD

Languages spoken: English, Italian

Academic Information

Departments Primary - Pediatrics , Adjunct - Pathology , Adjunct - Pediatrics

Divisions: Medical Genetics

Board Certification

  • Federal Licensing Examination

Research Interests

  • Inherited Insulin-Resistant Syndromes
  • Molecular Basis of Carnitine Deficiency
  • Molecular Genetics of Inherited Insulin-Resistant Syndromes
  • Therapy of Metabolic Disorders

Nicola Longo MD PhD 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.

Education History

Fellowship Emory University Affiliated Hospital
 Fellow
Emory University Affiliated Hospital
 Intern
Residency Emory University Affiliated Hospital
 Resident
University of Parma
 Postdoctoral Fellow
Fellowship Emory University Affiliated Hospital
 Fellow
University of Parma
 PhD
Professional Medical University of Parma
 MD

Selected Publications

Journal Article

  1. Bilder DA, Arnold GL, Dimmock D, Grant ML, Janzen D, Longo N, Nguyen-Driver M, Jurecki E, Merilainen M, Amato G, Waisbren S (2021). Improved attention linked to sustained phenylalanine reduction in adults with early-treated phenylketonuria. Am J Med Genet A, 188(3), 768-778. (Read full article)
  2. Palmquist R, Jenkins SM, Bentley D, Miller C, Mao R, Meibos B, Bayrak-Toydemir P, Tvrdik T, Nadauld LD, Bleyl SB, Chowdhury S, Ostrander B, Flores-Daboub J, Longo N, Tristani-Firouzi M, Hobbs C, Bonkowsky JL, Brunelli L (2022). Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics. Pediatr Res. (Read full article)
  3. Burton BK, Skalicky A, Baerwald C, Bilder DA, Harding CO, Ilan AB, Jurecki E, Longo N, Madden DT, Sivri HS, Wilcox G, Thomas J, Delaney K (2021). A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trials. Mol Genet Metab Rep, 29, 100810. (Read full article)
  4. Qi Y, Patel G, Henshaw J, Gupta S, Olbertz J, Larimore K, Harding CO, Merilainen M, Zori R, Longo N, Burton BK, Li M, Gu Z, Zoog SJ, Weng HH, Schweighardt B (2021). Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuria. Clin Transl Sci, 14(5), 1894-1905. (Read full article)
  5. 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 (2021). Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency. Mol Genet Metab, 134(1-2), 60-64. (Read full article)
  6. Ingoglia F, Chong JL, Pasquali M, Longo N (2021). Creatine metabolism in patients with urea cycle disorders. Mol Genet Metab Rep, 29, 100791. (Read full article)
  7. Vockley J, Longo N, Madden M, Dwyer L, Mu Y, Chen CY, Cataldo J (2020). Dietary management and major clinical events in patients with long-chain fatty acid oxidation disorders enrolled in a phase 2 triheptanoin study. Clin Nutr ESPEN, 41, 293-298. (Read full article)
  8. Vockley J, Burton B, Berry G, Longo N, Phillips J, Sanchez-Valle A, Chapman K, Tanpaiboon P, Grunewald S, Murphy E, Lu X, Cataldo J (2020). Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: Results from an open-label, long-term extension study. J Inherit Metab Dis, 44(1), 253-263. (Read full article)
  9. Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Lttgen S, Denecke J, Strom TM, Monaghan KG, DDD Study, Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Gnthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, unap K, Ilves P, Innes AM, Kernohan KD, Care4Rare Canada Consortium, Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H, CAUSES Study, Martin MG, Martinez-Agosto JA, Undiagnosed Diseases Network, Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vllo A, Prescott T, Fagerberg C, Laulund LW, Larsen MJ, Byler M, Lebel RR, Hurst AC, Dean J, Schrier Vergano SA, Norman J, Mercimek-Andrews S, Neira J, Van Allen MI, Longo N, Sellars E, Louie RJ, Cathey SS, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Crump JG, Chung W, Garcia B, Hakonarson HH, Bhoj EJ (2020). Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. Sci Adv, 6(49). (Read full article)
  10. Burton BK, Longo N, Vockley J, Grange DK, Harding CO, Decker C, Li M, Lau K, Rosen O, Larimore K, Thomas J, PAL-002 and PAL-004 Investigators (2020). Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up. Mol Genet Metab, 130(4), 239-246. (Read full article)
  11. De Biase I, Gherasim C, Laulu SL, Asamoah A, Longo N, Yuzyuk T (2020). Laboratory evaluation of homocysteine remethylation disorders and classic homocystinuria: Long-term follow-up using a cohort of 123 patients. Clin Chim Acta, 509, 126-134. (Read full article)
  12. Anderson DR, Viau K, Botto LD, Pasquali M, Longo N (2019). Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab, 129(1), 13-19. (Read full article)
  13. Gorshkov K, Wang AQ, Sun W, Fisher E, Frigeni M, Singleton M, Thorne N, Class B, Huang W, Longo N, Do MT, Ottinger EA, Xu X, Zheng W (2019). Phosphocyclocreatine is the dominant form of cyclocreatine in control and creatine transporter deficiency patient fibroblasts. Pharmacol Res Perspect, 7(6), e00525. (Read full article)
  14. SriBhashyam S, Marsh K, Quartel A, Weng HH, Gershman A, Longo N, Thomas J, Zori R (2019). A benefit-risk analysis of pegvaliase for the treatment of phenylketonuria: A study of patients' preferences. Mol Genet Metab Rep, 21, 100507. (Read full article)
  15. Smith N, Longo N, Levert K, Hyland K, Blau N (2019). Exploratory study of the effect of one week of orally administered CNSA-001 (sepiapterin) on CNS levels of tetrahydrobiopterin, dihydrobiopterin and monoamine neurotransmitter metabolites in healthy volunteers. Mol Genet Metab Rep, 21, 100500. (Read full article)
  16. 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 (2018). Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria. Genet Med, 21(8), 1851-1867. (Read full article)
  17. Diaz GA, Schulze A, Longo N, Rhead W, Feigenbaum A, Wong D, Merritt JL 2nd, Berquist W, Gallagher RC, Bartholomew D, McCandless SE, Smith WE, Harding CO, Zori R, Lichter-Konecki U, Vockley J, Canavan C, Vescio T, Holt RJ, Berry SA (2019). Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients. Mol Genet Metab, 127(4), 336-345. (Read full article)
  18. Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Hron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Loureno CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH (2019). SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Hum Mutat, 40(7), 908-925. (Read full article)
  19. Rovelli V, Manzoni F, Viau K, Pasquali M, Longo N (2019). Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab, 127(1), 64-73. (Read full article)
  20. Smith N, Longo N, Levert K, Hyland K, Blau N (2019). Phase I clinical evaluation of CNSA-001 (sepiapterin), a novel pharmacological treatment for phenylketonuria and tetrahydrobiopterin deficiencies, in healthy volunteers. Mol Genet Metab, 126(4), 406-412. (Read full article)
  21. Carlston CM, Ferdinandusse S, Hobert JA, Mao R, Longo N (2018). Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency. JIMD Rep, 43, 103-109. (Read full article)
  22. Bennett EE, Hummel K, Smith AG, Longo N (2018). Acute Presentation and Management of the Encephalopathic Child With an Undiagnosed Inborn Error of Metabolism. J Emerg Med, 56(1), e5-e8. (Read full article)
  23. Vockley J, Burton B, Berry GT, Longo N, Phillips J, Sanchez-Valle A, Tanpaiboon P, Grunewald S, Murphy E, Bowden A, Chen W, Chen CY, Cataldo J, Marsden D, Kakkis E (2019). Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD). J Inherit Metab Dis, 42(1), 169-177. (Read full article)
  24. Hausmann O, Daha M, Longo N, Knol E, Mller I, Northrup H, Brockow K (2019). Pegvaliase: Immunological profile and recommendations for the clinical management of hypersensitivity reactions in patients with phenylketonuria treated with this enzyme substitution therapy. Mol Genet Metab, 128(1-2), 84-91. (Read full article)
  25. Hberle J, Chakrapani A, Ah Mew N, Longo N (2018). Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories. Orphanet J Rare Dis, 13(1), 219. (Read full article)
  26. Zori R, Thomas JA, Shur N, Rizzo WB, Decker C, Rosen O, Li M, Schweighardt B, Larimore K, Longo N (2018). Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuria. Mol Genet Metab, 125(3), 217-227. (Read full article)
  27. Yuzyuk T, Balakrishnan B, Schwarz EL, De Biase I, Hobert J, Longo N, Mao R, Lai K, Pasquali M (2018). Effect of genotype on galactose-1-phosphate in classic galactosemia patients. Mol Genet Metab, 125(3), 258-265. (Read full article)
  28. Berry SA, Vockley J, Vinks AA, Dong M, Diaz GA, McCandless SE, Smith WE, Harding CO, Zori R, Ficicioglu C, Lichter-Konecki U, Perdok R, Robinson B, Holt RJ, Longo N (2018). Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders. Mol Genet Metab, 125(3), 251-257. (Read full article)
  29. Longo N, Zori R, Wasserstein MP, Vockley J, Burton BK, Decker C, Li M, Lau K, Jiang J, Larimore K, Thomas JA (2018). Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study. Orphanet J Rare Dis, 13(1), 108. (Read full article)
  30. Harding CO, Amato RS, Stuy M, Longo N, Burton BK, Posner J, Weng HH, Merilainen M, Gu Z, Jiang J, Vockley J, PRISM-2 Investigators (2018). Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial. Mol Genet Metab, 124(1), 20-26. (Read full article)
  31. Yuzyuk T, Viau K, Andrews A, Pasquali M, Longo N (2018). Biochemical changes and clinical outcomes in 34 patients with classic galactosemia. J Inherit Metab Dis, 41(2), 197-208. (Read full article)
  32. Charrow J, Fraga C, Gu X, Ida H, Longo N, Lukina E, Nonino A, Gaemers SJM, Jouvin MH, Li J, Wu Y, Xue Y, Peterschmitt MJ (2018). Once- versus twice-daily dosing of eliglustat in adults with Gaucher disease type 1: The Phase 3, randomized, double-blind EDGE trial. Mol Genet Metab, 123(3), 347-356. (Read full article)
  33. Frigeni M, Balakrishnan B, Yin X, Calderon FRO, Mao R, Pasquali M, Longo N (2017). Functional and molecular studies in primary carnitine deficiency. Hum Mutat, 38(12), 1684-1699. (Read full article)
  34. Berry SA, Longo N, Diaz GA, McCandless SE, Smith WE, Harding CO, Zori R, Ficicioglu C, Lichter-Konecki U, Robinson B, Vockley J (2017). Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years. Mol Genet Metab, 122(3), 46-53. (Read full article)
  35. Simcox J, Geoghegan G, Maschek JA, Bensard CL, Pasquali M, Miao R, Lee S, Jiang L, Huck I, Kershaw EE, Donato AJ, Apte U, Longo N, Rutter J, Schreiber R, Zechner R, Cox J, Villanueva CJ (2016). Global Analysis of Plasma Lipids Identifies Liver-Derived Acylcarnitines as a Fuel Source for Brown Fat Thermogenesis. Cell Metab, 26(3), 509-522.e6. (Read full article)
  36. Longo N, Price LB, Gappmaier E, Cantor NL, Ernst SL, Bailey C, Pasquali M (2017). Anaplerotic therapy in propionic acidemia. Mol Genet Metab, 122(1-2), 51-59. (Read full article)
  37. Vockley J, Burton B, Berry GT, Longo N, Phillips J, Sanchez-Valle A, Tanpaiboon P, Grunewald S, Murphy E, Humphrey R, Mayhew J, Bowden A, Zhang L, Cataldo J, Marsden DL, Kakkis E (2017). UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24weeks of treatment. Mol Genet Metab, 120(4), 370-377. (Read full article)
  38. Sharer JD, Bodamer O, Longo N, Tortorelli S, Wamelink MM, Young S (2017). Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics. Genet Med, 19(2), 256-263. (Read full article)
  39. Merrill ST, Nelson GR, Longo N, Bonkowsky JL (2016). Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature. Orphanet J Rare Dis, 11(1), 169. (Read full article)
  40. Longo N (2016). Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle. Ann Nutr Metab, 68 Suppl 3, 5-9. (Read full article)
  41. Ardon O, Procter M, Tvrdik T, Longo N, Mao R (2014). Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. Mol Genet Metab Rep, 1, 71-84. (Read full article)
  42. Longo N, Wang Y, Smith SA, Langley SD, DiMeglio LA, Giannella-Neto D (2002). Genotype-phenotype correlation in inherited severe insulin resistance. Hum Mol Genet, 11(12), 1465-75. (Read full article)

Review

  1. Longo N, Sass JO, Jurecka A, Vockley J (2022). Biomarkers for drug development in propionic and methylmalonic acidemias. [Review]. J Inherit Metab Dis. (Read full article)
  2. Hagen-Lillevik S, Rushing JS, Appiah L, Longo N, Andrews A, Lai K, Johnson J (2021). Pathophysiology and management of classic galactosemic primary ovarian insufficiency. [Review]. Reprod Fertil, 2(3), R67-R84. (Read full article)
  3. van Spronsen FJ, Blau N, Harding C, Burlina A, Longo N, Bosch AM (2021). Phenylketonuria. [Review]. Nat Rev Dis Primers, 7(1), 36. (Read full article)
  4. Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM (2020). Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency. [Review]. J Inherit Metab Dis, 44(1), 178-192. (Read full article)

Case Report

  1. Flores Daboub JA, Grimmer JF, Frigerio A, Wooderchak-Donahue W, Arnold R, Szymanski J, Longo N, Bayrak-Toydemir P (2020). Parkes Weber syndrome associated with two somatic pathogenic variants in RASA1. Cold Spring Harb Mol Case Stud, 6(4). (Read full article)

Other

  1. Hberle J, Moore MB, Haskins N, Rfenacht V, Rokicki D, Rubio-Gozalbo E, Tuchman M, Longo N, Yandell M, Andrews A, AhMew N, Caldovic L (2021). Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene. Hum Mutat (42(12), pp. 1624-1636). United States. (Read full article)
  2. Waisbren S, Burton BK, Feigenbaum A, Konczal LL, Lilienstein J, McCandless SE, Rowell R, Sanchez-Valle A, Whitehall KB, Longo N (2021). Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis. Mol Genet Metab (132(2), pp. 119-127). United States. (Read full article)
  3. Longo N, Diaz GA, Lichter-Konecki U, Schulze A, Inbar-Feigenberg M, Conway RL, Bannick AA, McCandless SE, Zori R, Hainline B, Ah Mew N, Canavan C, Vescio T, Kok T, Porter MH, Berry SA (2020). Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders. Mol Genet Metab (132(1), pp. 19-26). United States. (Read full article)
  4. Manzoni F, Salvatici E, Burlina A, Andrews A, Pasquali M, Longo N (2020). Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth. Mol Genet Metab (131(4), pp. 380-389). United States. (Read full article)