Gastrointestinal involvement in homocystinuria

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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.