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.
The diagnosis and management of children with fatty acid oxidation defects and organic acidemias
Research FocusDietary treatments for newborns with fatty acid oxidation defects
Jose E Abdenur MD is on staff at CHOC Hospital in Orange .
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
Dr. Abdenur's Publications
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease
Tetrahydrobiopterin: Beyond Its Traditional Role as a Cofactor
Riboflavin deficiency due to vitamin shortage in neonates with parenteral nutrition dependence
The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy
Health Topics
Metabolic tests are done on newborns with very small blood samples that are taken at birth from every baby in California.
