Gastrointestinal involvement in homocystinuria.
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.
Ilan
Y
Y
Department of Medicine, Hadassah University Hospital, Jerusalem, Israel.
Eid
A
A
Rivkind
A I
AI
Weiss
D
D
Dubin
Z
Z
Yatziv
S
S
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*
D001622:Betaine; D003541:Cystathionine beta-Synthase