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What is Homocystinuria due to defect in methylation cbl e?

April 26, 2017cbl defect homocystinuria Methylation

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What is Homocystinuria due to defect in methylation cbl e?

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• Homocystinuria due to defect in methylation cbl e: An inherited organic acid disorder where an enzyme deficiency (methionine synthase reductase) impairs the body’s ability to break down certain proteins consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in harmful affects. It is a form of vitamin B12 deficiency.