Liver failure and neurologic disease in a patient with homocystinuria.
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.
Snyderman
Selma E
SE
Department of Human Genetics, Mount Sinai School of Medicine, One Gustave L. Levy place, Box 1497, New York, NY 10029, USA. selma.snyderman@mssm.edu
D000328:Adult; D006710:Homocysteine / Q000097:blood; D006712:Homocystinuria / Q000097:blood / Q000150:complications*; D006801:Humans; D017093:Liver Failure / Q000097:blood / Q000209:etiology* / Q000601:surgery; D016031:Liver Transplantation; D008297:Male; D008715:Methionine / Q000097:blood; D009422:Nervous System Diseases / Q000097:blood / Q000209:etiology*
D006710:Homocysteine; D008715:Methionine