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CASE REPORTS
JOURNAL ARTICLE
Liver failure and neurologic disease in a patient with homocystinuria.
Molecular Genetics and Metabolism 2006 March
A homocystinuric patient with the typical clinical and metabolic features of the disorder started treatment at 22 years of age. A diet with controlled methionine intake resulted in good metabolic control for five years, but control could not be attained for the following 1 1/2 years. This was accompanied by the development of paraparesis and increasing liver failure. A liver transplantation was successful in achieving metabolic control without the need for any dietary restrictions.
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