title: Gastrointestinal involvement in homocystinuria.
abstract: Homocystinuria is frequently associated with severe multisystem involvement such as dislocated lenses, skeletal deformities, mental retardation and premature vascular occlusions. Surprisingly, gastro-intestinal involvement has not been described in this disorder. We present a 17 year old boy with homocystinuria due to cystathionine beta-synthase deficiency, who developed severe gastrointestinal involvement, manifested by chronic diarrhoea and acute pancreatitis. The diarrhoea was successfully treated with betaine. Possible pathophysiological mechanisms and suggested treatment are described.
authors.affiliation: Department of Medicine, Hadassah University Hospital, Jerusalem, Israel.
authors.forename: Y
authors.initials: Y
authors.lastname: Ilan
authors.forename: A
authors.initials: A
authors.lastname: Eid
authors.forename: A I
authors.initials: AI
authors.lastname: Rivkind
authors.forename: D
authors.initials: D
authors.lastname: Weiss
authors.forename: Z
authors.initials: Z
authors.lastname: Dubin
authors.forename: S
authors.initials: S
authors.lastname: Yatziv
mesh_terms: D000293:Adolescent; D001622:Betaine / Q000627:therapeutic use; D003541:Cystathionine beta-Synthase / Q000172:deficiency; D003967:Diarrhea / Q000188:drug therapy / Q000209:etiology*; D006712:Homocystinuria / Q000150:complications*; D006801:Humans; D008297:Male; D010195:Pancreatitis / Q000209:etiology*
chemical_list: D001622:Betaine; D003541:Cystathionine beta-Synthase