Identification of genes causing defects in vitamin B12 metabolism

Investigators at the University of Calgary, McGill University and the McGill University Health Centre have identified genes that underlie two severe diseases of vitamin B12 metabolism. The two diseases, known as the cblA and cblB forms of methylmalonic aciduria, may produce brain damage, mental retardation and death. Identifying the genes that cause cblA and cblB represents a landmark breakthrough for patients suffering from the disease. The discovery will make possible DNA testing for carriers.

Canadian Institutes of Health Research

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

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