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Identification of genes causing defects in vitamin B12 metabolism

ugh for patients suffering from both forms of the disease. "The discovery will make possible DNA testing for carriers and early prenatal diagnosis. This is important because treatment can be started during pregnancy," says Rosenblatt. Fortunately, many patients can be treated with high dose vitamin B12 supplements and a diet that is low in protein.

"This research will lead to better understanding of the disorder and provides hope to those families living with this disease," adds Kathy Stagni, Executive Director of the Organic Acidemia Association, a nonprofit organization that supports families with inherited metabolic disorders.

This research is published in the November 26 issue of the Proceedings of the National Academy of Sciences (USA) and the December 15 issue of Human Molecular Genetics.

This study was supported by the Canadian Institutes of Health Research (CIHR), the National Institutes of Health (USA), and the March of Dimes Birth Defects Foundation.

The scientists are members of the Medical Genetics Group of the CIHR and the Canadian Genetic Diseases Network. Based at McGill, the Medical Genetics Group has existed since 1972, a record for sustained federal funding for such research.


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Contact: Christine Zeindler
christine.zeindler@muhc.mcgill.ca
514-934-1934
McGill University
10-Dec-2002


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