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4. Homocystinuria

One of the conditions resulting from an MTHFR mutation is homocystinuria. The body is unable to process both homocysteine and methionine, and this causes abnormal clotting, eye problems, learning problems, and skeletal abnormalities, though how it causes them is not yet understood. As the homocysteine builds up in the blood, it is excreted in the urine.

Homocystinuria diagnosis

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