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Gene test hope for vitamin B-12 metabolism diseases:

This article was originally published in Clinica

Executive Summary

A Canadian team has moved closer to the development early tests for two severe diseases of vitamin B-12 metabolism, after identifying the genes that cause the conditions. The diseases, known as the cblA and cblB forms of methylmalonic aciduria, may produce brain damage, mental retardation and even death if not detected in infancy or early childhood. The genetic discovery could lead to DNA testing for carriers and early prenatal diagnosis, which are important as treatment for the conditions can be started during pregnancy, according to the research, published in Human Molecular Genetics (December 15).

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