High liver glycogen in hereditary fructose intolerance
ARR Cain, BE Ryman - Gut, 1971 - gut.bmj.com
ARR Cain, BE Ryman
Gut, 1971•gut.bmj.comA case of hereditary fructose intolerance is reported in a girl aged 2 years at the time of her
death. She had apparently progressed normally until the age of 14 months. At 19 months
she was admitted to hospital with failure to thrive, hepatomegaly, and superficial infections.
Investigations revealed hypoglycaemia, persistent acidosis, aminoaciduria, and a high liver
glycogen level which suggested that she had glycogen storage disease. There was also
some evidence of malabsorption. At necropsy the liver enzyme estimations showed that …
death. She had apparently progressed normally until the age of 14 months. At 19 months
she was admitted to hospital with failure to thrive, hepatomegaly, and superficial infections.
Investigations revealed hypoglycaemia, persistent acidosis, aminoaciduria, and a high liver
glycogen level which suggested that she had glycogen storage disease. There was also
some evidence of malabsorption. At necropsy the liver enzyme estimations showed that …
A case of hereditary fructose intolerance is reported in a girl aged 2 years at the time of her death. She had apparently progressed normally until the age of 14 months. At 19 months she was admitted to hospital with failure to thrive, hepatomegaly, and superficial infections. Investigations revealed hypoglycaemia, persistent acidosis, aminoaciduria, and a high liver glycogen level which suggested that she had glycogen storage disease. There was also some evidence of malabsorption.
At necropsy the liver enzyme estimations showed that fructose 1-phosphate aldolase activity was absent and that fructose 1,6-diphosphate aldolase activity was reduced. Hereditary fructose intolerance and glycogen storage disease have been confused in the past on clinical grounds, but a high liver glycogen level has not previously been reported in hereditary fructose intolerance.
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