Journal
MOLECULAR GENETICS AND METABOLISM
Volume 87, Issue 3, Pages 210-212Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2005.10.010
Keywords
homocystinuria; paraparesis; liver failure; metabolic control; liver transplantation
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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 11/2 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. (C) 2005 Elsevier Inc. All rights reserved.
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