Dr. Jose E. Abdenur, Medical Director, Metabolic Disorders

Dr. Abdenur is the chief of the division of metabolic disorders at CHOC 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.

Clinical 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


CHOC Clinic
1201 W. La Veta Ave. Building: CHOC Clinic
Orange, CA 92868
phone: 888-770-2462
fax: 855-246-2329

CHOC Health Center in Corona
854 Magnolia Ave. 101
Corona, CA 92879

CHOC Specialists
1201 W La Veta
Orange, CA 92868
phone: 714-509-8852
fax: 714-509-8362


  • 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

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

Administrative Appointments

  • Chair, Metabolic Diseases
  • Director, Metabolic Laboratory
  • Director, Metabolic Services
  • Medical Director, Metabolic Disorders
    CHOC Specialists
  • Director, Metabolic Fellowship
    CHOC Specialists

Honors and Awards

  • “Agent of Change”
    Children and Families Commission of Orange County

Lectures and Presentations

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

  • Jose E Abdenur MD
    • Appointments:
    • Office: 714-509-8852
    • Specialty: Metabolic Disorders
    • Board Certified: Clinical and Biochemical Genetics
    • On Staff at: CHOC Hospital in Orange

Health Topics

Metabolic screening

Metabolic Tests at Birth

Metabolic tests are done on newborns with very small blood samples that are taken at birth from every baby in California.