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Nicola Longo, M.D., Ph.D.

last modified 2013-08-01 09:43 — by u0110722

Professor of Pediatrics

Adjunct Professor of Pathology

Scholarly Emphasis: Carnitine and fatty acid oxidation disorders; therapy for inborn errors of metabolism; organic acidemias
Nicola Longo, M.D., Ph.D.

Contact Info

Email Address: nicola.longo (at)

Office Phone Number: 801-587-9071

Also Works in: ARUP Institute for Clinical and Experimental Pathology  

Also Works in: ARUP  

Supporting Staff:   Kimberley Crist  



  • Chief, Division of Medical Genetics, Department of Pediatrics
  • Director, Metabolic Service, Department of Pediatrics
  • Co-Director, Biochemical Genetics Laboratory, ARUP Laboratories
  • Director, Training Program in Clinical Biochemical Genetics

About Nicola Longo, M.D., Ph.D.

Dr. Longo's laboratory is investigating the molecular bases of carnitine deficiency.  Current studies are identifying proteins interacting with the OCTN2 carnitine transporter that might contribute to cause disease in humans.  New therapies are being evaluated for different metabolic disorders to include lysosomal storage disorders, organic acidemias, and disorders of amino acid metabolism.

Selected Publications

  • Amat di San Filippo C, Taylor MR, Mestroni L, Botto LD, Longo N (2008) Cardiomyopathy and carnitine deficiency. Mol Genet Metab 94(2):162-6.
  • Longo N, Schrijver I, Vogel H, Pique LM, Cowan TM, Pasquali M, Steinberg GK, Hedlund GL, Ernst SL, Gallagher RC, Enns GM (2008) Progressive cerebral vascular degeneration with mitochondrial encephalopathy. Am J Med Genet A 146(3):361-7.
  • Arnold GL, Koeberl DD, Matern D, Barshop B, Braverman N, Burton B, Cederbaum S, Fiegenbaum A, Garganta C, Gibson J, Goodman SI, Harding C, Kahler S, Kronn D, Longo N (2008) A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Mol Genet Metab 93(4):363-70.
  • Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Truong C, Schmitt E, Sifry-Platt M, Lucioli S, Santorelli FM, Ficicioglu CH, Rodriguez M, Wierenga K, Enns GM, Arch EM, Longo N, Lipson MH, Vallance H, Craigen WJ, Scaglia F, Wong L-J (2008) Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat 29(2):330-1.
  • Longo N, Li SK, Yan G, Kochambilli RP, Papangkorn K, Berglund D, Ghanem A-H, Ashurst CL, Ernst SL, Pasquali M, Higuchi WI (2007) Noninvasive measurement of phenylalanine by iontophoretic extraction in patients with phenylketonuria. J Inherit Metab Dis 30(6):910-5.
  • All Publications: Click Here

Honors and Awards

  • M.D. Summa cum Laude (1982)
  • Battioni Award for Cancer Research, Parma, Italy (1988)
  • NIH FIRST Award (1995)
  • Dean's Clinical Investigator Award, Emory University (2000)

Professional Education

  • 1976 Maturita' Scientifica, Liceo Scientifico Statale G Marconi, Parma, Italy
  • 1982 MD summa cum laude: University of Parma School of Medicine, Parma, Italy
  • 1988 PhD (Molecular Biology and Pathology) University of Parma School of Medicine, Parma, Italy