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A Communication Service for Physicians from CHOC and CHOC at Mission. Please Note: Physician Connection is no longer being printed and is now available electronically. Please visit our blog at http://docs.chocchildrens.org for the latest articles for our physician community. You can also receive our electronic Physician Connection newsletter in your inbox by subscribing to our mailing list: http://www.choc.org/subscribe

CHOC To Become Regional Center For Diagnosis, Treatment of Metabolic Disorders

A mother had lost three children within the first year of life, and a fourth child was on the way. Her physician suspected the possibility of an inborn metabolic disorder and ordered a newborn screening panel immediately after the child was born. This simple blood test using tandem mass spectrometry (TMS) diagnosed the newborn with Multiple Acyl- CoA-Dehydrogenase Deficiency (MADD), a disorder of fatty acid and protein metabolism.

Most children with this disorder die within a few weeks of life, but dietary intervention altered the course for this child. And after initiating therapy, pediatric metabolic specialist Jose Abdenur, M.D., continued using TMS to monitor the child's response to different feedings and dietary changes. In 2001, when Dr. Abdenur published his results in Pediatric Research, the child was approaching age 4, and experiencing normal growth and development.

Early testing, diagnosis and treatment are critical to preventing complications, permanent disability, mental retardation and death in children with inborn metabolic disorders. CHOC will become a regional center for the testing and treatment of these disorders when the stateof- the-art Metabolic Lab opens in July.

Under the direction of Jose Abdenur, M.D., medical director of CHOC Metabolic services, the fully equipped lab features leading-edge diagnostic equipment, including tandem mass spectrometry (TMS) and gas chromatography with mass spectrometry (GCMS). The lab will provide 48- hour turn-around on tests currently taking up to 10 days for results, including primary testing for organic acids, amino acids, acylcarnitines and carnitine (total and free.)

"Metabolic disorders are much more common than previously believed. The probability of combined incidences for all disorders is about 1 in 1,000," Dr. Abdenur says. "With early diagnosis and treatment, many of these kids can have a normal life. Also, new treatment strategies are being developed all the time, so even children diagnosed years ago may benefit from new treatment advances."

Dr. Abdenur says most treatments involve specific diets and formulas devoid of the metabolites for which patients lack the corresponding enzymes. For some disorders, enzyme replacement therapy may be an option. This newer treatment has been very successful in treating certain lysosomal storage disorders.

Board-certified in clinical biochemical genetics, Dr. Abdenur is internationally recognized for his knowledge of pediatric metabolic disorders. Extensively published, his work appears in several medical journals and textbooks, and he has presented at medical meetings in the United States, Europe, United Kingdom and throughout South America.

Previously, Dr. Abdenur was associate scientific director at Fundacion para el Estudio de las Entermedades Neurometabolics (FESEN), an institution devoted to diagnosis, management and research of inborn errors of metabolism in Buenos Aires, Argentina. Prior to that, Dr. Abdenur was an assistant professor in the department of human genetics at the Mount Sinai School of Medicine in New York.

Dr. Abdenur completed a fellowship in pediatric endocrinology, metabolism and nutrition at North Shore University Hospital, Cornell University Medical College in Manhasset, New York. Additionally, he completed fellowship training in biochemical genetics at Denver Children's Hospital and in 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 is a graduate of the Universidad de Buenos Aires, Argentina, and completed his pediatric residency training at Hospital General de Ni'os de Pedro de Elizalde in Buenos Aires.

Dr. Abdenur is available for consultation. For more information or to contact him, please call the PSF Metabolic Disorders office at 714-532-8852.


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Children's Hospital of Orange County is affiliated with UC Irvine Healthcare and UC Irvine School of Medicine

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