CHOC Docs :: Provider Profile

Jose E Abdenur, MD



Metabolic Disorders

Board Certified:
Clinical and Biochemical Genetics

Special Interests:
The diagnosis and management of children with fatty acid oxidation defects and organic acidemias

Research Focus:
Dietary treatments for newborns with fatty acid oxidation defects

Dr. Abdenur is on staff at CHOC Children's Hospital

CHOC Children's Clinic
1201 W. La Veta Ave.
Building: CHOC Clinic
Orange, CA 92868
phone: 888-770-2462
fax: 855-246-2329
map & directions

Physician / Researcher Bio

Dr. Abdenur is the chief of the division of metabolic disorders at CHOC Children's and Director of CHOC's metabolic laboratory one of only a few such laboratories in the United States. He is board certified in clinical biochemical genetics and is a member of the guidelines committee for the Newborn Screening Program, Genetic Diseases Screening Program for the California Department of Health.

Dr. Abdenur completed fellowship training in pediatric endocrinology, metabolism and nutrition at North Shore University Hospital, Cornell University Medical College. He also completed fellowship training in Biochemical Genetics, at the Denver Children's Hospital and The Biochemical Genetics Laboratory at the University of Colorado Health Sciences Center, and in Clinical Genetics at Mount Sinai School of Medicine in New York. Dr. Abdenur completed his pediatric residency training at Hospital General de Ninos Dr. Pedro de Elizalde in Buenos Aires and received his medical training at the Universidad de Buenos Aires, Argentina.

Administrative Appointments

  • Chair, Metabolic Diseases, CHOC Children's
  • Director, Metabolic Laboratory, CHOC Children's
  • Division Chief, Metabolic Disorders, CHOC Children’s Specialists

Academic Appointments

  • Associate Clinical Professor of Pediatrics
    University of California, Irvine
  • Director, Medical and Clinical Biochemical Genetics Training
    Cedars Sinai “ UCLA Intercampus Medical Genetics training program


  • Fellowship - Biochemical Genetics
    The Mount Sinai Hospital, Department of Pediatrics and Genetics, Mount Sinai School of Medicine, New York, NY, USA. The Children’s Hospital and Biochemical Genetics Laboratory, Department of Pediatrics, University of Colorado Health Sciences Center, Denver, Colorado, USA
  • Fellowship- Human Genetics
    The Mount Sinai Hospital Department of Pediatrics and Genetics, Mount Sinai School of Medicine, New York, NY, USA.
  • Fellowship-Pediatric Endocrinology, Metabolism and Nutrition
    North Shore University Hospital, Department of Pediatrics, Cornell University Medical College, Manhasset, New York, USA
  • Research Fellow in Pediatric Endocrinology
    Hospital General de Ninos Dr. Pedro de Elizalde Unidad de Endocrinología Pediatrica Buenos Aires, Capital Federal. R.Argentina.
  • Research Fellow in Pediatric Endocrinology
    Hospital General de Ninos Dr. Pedro de Elizalde Unidad de Endocrinología Pediatrica Buenos Aires, Capital Federal. R.Argentina.


Dr. Abdenur is dedicated to investigating screenings for metabolic disorders in newborns and dietary treatments for newborns with fatty acid oxidation defects. He is currently working on newborn screenings for Krabbe disease. He is also working to identify maternal metabolic disorders through a newborn screening program. In addition, he is investigating the use of low-fat diets for infants with Mead deficiency.

Dr. Abdenur has coauthored more than 150 abstracts, presentations, book chapters, and journal articles and has received numerous awards.

Board Certifications

  • Clinical and Biochemical Genetics
    American Board of Medical Genetics

Honors and Awards

  • "Agent of Change"
    Children and Families Commission of Orange County

Published Works

Wang RY, Monuki ES, Powers J, Schwartz PH, Watkins PA, Shi Y, Moser A, Shrier DA, Waterham HR, Nugent DJ, Abdenur JE. Two siblings with acyl-CoA oxidase deficiency: longitudinal brain imaging, neuropathology, and outcome of hematopoietic stem cell transplantation. Submitted, April 2013

Merritt JL, Vedal S, Abdenur JE, Au S, Barshop BA, Feuchtbaum L, Harding CO, Hermerath Ch, Lorey FW, Sesser DE, Thompson JD, Yu A. Infants Suspected With Very-Long Chain Acyl-CoA Dehydrogenase Deficiency from Newborn Screening. Submitted. JAMA Pediatrics, April 2013.

Morris M, Fischer K, Elliott L, Leydiker K, Newby J, Abdenur J. Reduction in metabolic newborn screening false positive results following a new collection protocol. Submitted. Pediatrics, March 2013.

Keren Jacqueline Carss, Elizabeth Stevens, A Reghan Foley, Sebahattin Cirak, Moniek Riemersma, Silvia Torelli, Alexander Hoischen, Tobias Willer, Monique van Scherpenzeel, Steven A Moore, Sonia Messina, Enrico Bertini, Carsten G Bönnemann, Jose E Abdenur, Carla M Grosmann, Akanchha Kesari, Jaya Punetha, Ros Quinlivan, Leigh B Waddell, Helen K Young, Elizabeth Wraige, Shu Yau, Lina Brodd, Lucy Feng, Caroline Sewry, Daniel G MacArthur, Kathryn B North, Eric Hoffman, Derek Stemple, Matthew Hurles, Hans van Bokhoven, Kevin P Campbell, Dirk J Lefeber, UK10K Consortium, Yung-Yao Lin, Francesco Muntoni. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb girdle muscular dystrophies ssociated with hypoglycosylation of -dystroglycan. Submitted. AJHG February 2013.

Wang RY, Chang R, Sowa M, Chang A, Abdenur JE. Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiac surgery requiring cardiopulmonary bypass. Submitted. World Journal of Pediatrics. Jan 2013.

Miyake N, Yano S, Sakai C, Hatakeyama H, Matsushima Y, Shiina M, Watanabe Y, Bartley J, Abdenur JE, Wang RY, Chang R, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Ogata K, Goto YI, Matsumoto N. Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation. Hum Mutat. 2012 Dec 19. doi: 10.1002/humu.22257. [Epub ahead of print]

Staropoli JF, Karaa A, Lim E, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenur JE, Daly MJ, Sims KB,Cotman SL. A novel homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. Am J Hum Genet. 2012, 91(1):202-8.

Gallant NM, Leydiker K, Tang H, Feutchbaum L, Lorey F, Puckett R, Deignan J, Neidich J, Dorrani N, Chang E, , Barshop BA, Cederbaum SD, Abdenur JE, Wang RY. Biochemical, Molecular, and Clinical Characteristics of Children with Short Chain Acyl-CoA Dehydrogenase Deficiency Detected via Newborn Screen in California. Molecular Genetics and Metabolism. 2012, 106(1):55-61.

Williams TB, Daniels M, Puthenveetil G, Chang R, Wang RY, Abdenur JE. Neonatal Diabetes and Adrenal Insufficiency as early manifestations of Pearson Syndrome. Molecular Genetics and Metabolism. 2012, 106(1)104-7.

Friedman J, Roze E, Abdenur JE, Chang R, Gasperini S, Saletti V, Wali GM, Eiroa H, Neville B, Felice A, Parascandalo R, Zafeiriou DI, Arrabal-Fernandez L, Dill P, Eichler FS, Echenne B, Gutierrez-Solana LG, Hoffmann GF, Hyland K, Kusmierska K, Tijssen MAJ, Lutz T, Mazzuca M, Penzien J, Poll-The BT, Sykut-Cegielska J, Szymanska K, Thöny B, Blau N. Sepiapterin Reductase Deficiency: a treatable mimic of cerebral palsy. Annals of Neurology. 2012, 71(4):520-30.

Enns GE, Kinsman SL, Perlman SL, Spicer KM, Abdenur JE, Cohen BH, Amagata A, Barnes A, Kheifets V, Shrader WD, Thoolen M, Blankenberg F, Miller G. Initial Experience in the Treatment of Inherited Mitochondrial Disease with EPI-743. Molecular genetics and Metabolism 2012, 105 (1): 91-102.

Puckett RL, Orsini JJ, Pastores GM, Wang RY, Chang R, Saavedra-Matiz CA, Torres PA, Zeng B, Caggana M, Lorey F, Abdenur JE. Krabbe Disease: Clinical, Biochemical and Molecular Information on Six New Patients and Successful Retrospective Diagnosis Using Stored Newborn Screening Cards. Molecular genetics and Metabolism, 105 (1):126-31.

McHugh D, Cameron C, Abdenur JE et al. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project. Genet Med. 2011 Feb 15. Genetics in Medicine 2011, 13:230-254.

Leydiker KB, Neidich JA, Lorey F, Barr EM, Puckett RL, Lobo RM, Abdenur JE. Maternal medium chain acyl co-a dehydrogenase deficiency identified by expanded newborn screening. Mol Genet Metab. 2011 Jan 27. Molecular Genetics an Metabolism 2011, 103: 92-95.

Gavrilov DK Tortorelli S, Turgeon CT, McHugh DMS, Lim JS, Baumgart S, Bergum A, Day-Salvatore DL, Abdenur JE, Bernstein J, Lorey F, Lichter-Konecki U, Oglesbee D, Raymond K, Matern D, Schimmenti L, Rinaldo P. A two-tier approach to the newborn screening of methylenetratrahydrofolate reductase deficiency and other re-methylation disorders by tandem mass spectrometry. The Journal of Pediatrics 2010; 157:271-275.

Brun L, Hock Ngu L, Choy YS, Hwu WL, Siew ChG, Willemsen M, Verbeek M, Lee WT, Régal L, Orcesi S, Tonduti D, Téstard H, Abdenur JE, Tay S, Allen GF, Heales S, Kern I, Kato M, Burlina A, Manegold C, Hoffmann GF, and Blau N. Diagnosis, outcome, and long-term follow-up of 77 patients with aromatic L-amino acid decarboxylase deficiency: Lesson from the international database of pediatric neurotransmitter disorders. Neurology 2010; 75:64-71.

Puckett R, Sowa M, Lorey F, Levine S, Rinaldo P, Lipson M, Matern D, Sowa M, Levine S, Chang R, Wang R, Abdenur JE. Maple syrup urine disease (MSUD) : Further evidence that variant forms cannot be detected by newborn screening (NBS). MGM 2010; 100: 136-142.

Kranendijk M; Struys EA; Gibson KM; Wickenhagen WV; Abdenur JE; Buechner J; Christensen E; Dodelson de Kremer R; Errami A; Gissen P; Gradowska W; HobsonE; Islam L; Korman SH; Kurczynski T; Maranda B; Meli C; Rizzo C; Sansaricq C; Trefz FK; Webster R; Jakobs C; Salomons GS. Evidence for genetic loci heterogeneity in D-2-hydroxyglutaric aciduria. Hum Mutat. 2010; 31(3): 279-83.

Wang RY, Cambray-Forker EJ, Ohanian K, Karlin DS, Covault KK, Schwartz PH, Abdenur JE,Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II. MGM, 2009, 98 (4):406-11.

Puckett RL, Moore SA, Winder TL, Willer T, Romansky SG, Covault K, Campbell KP, Abdenur JE. Further Evidence of Fukutin Mutations as a Cause of Childhood Onset Limb-Girdle Muscular Dystrophy without Mental Retardation. Neuromuscular Disorders, 2009, 19:352-56.

Lectures and Presentations

  • Hematological Manifestations of Inborn Metabolic Diseases
  • Signs and symptoms approach to Inborn Errors of Metabolism
  • Mitochondrial Diseases
  • Newborn Screening for Inborn Metabolic Diseases
  • Fatty acid Oxidation defects, diagnosis and treatment
  • Newborn Screening by Tandem Mass Spectrometry
  • Organic Acidemias: diagnosis and treatment
  • When to think Metabolic: Clinical and Laboratory manifestations
  • Gamma Polymerase deficiency presenting as Alper’s syndrome
  • Acylcarnitines: Clinical Interpretation of the results
  • Organic Acid Analysis by GC-MS
  • Newborn Screening by Tandem Mass Spectrometry
  • Organic Acidemias Diagnosis and management
  • Congenital Muscle dystrophies due to glycosylation defects

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UC Irvine

CHOC Children's is affiliated with the UC Irvine School of Medicine