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

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.

Education

• 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
  CHOC
• Director, Metabolic Laboratory
  CHOC
• Director, Metabolic Services
  CHOC
• 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