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Gastrointestinal involvement in homocystinuria
Author(s) -
ILAN Y.,
EID A.,
RIVKIND A. I.,
WEISS D.,
DUBIN Z.,
YATZIV S.
Publication year - 1993
Publication title -
journal of gastroenterology and hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.214
H-Index - 130
eISSN - 1440-1746
pISSN - 0815-9319
DOI - 10.1111/j.1440-1746.1993.tb01176.x
Subject(s) - homocystinuria , medicine , cystathionine beta synthase , pathophysiology , gastroenterology , pediatrics , methionine , biochemistry , chemistry , amino acid
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.