vi medicine informatics




Hypoglycemia. In the setting of vomiting and recent addition of fruit juice (ie, fructose) to infants diet, PT most likely has hereditary fructose intolerance, a deficiency in aldolase B. Aldolase B is important in the conversion of fructose-1-phosphate from fruit to products that can be used in glycolysis. Therefore a deficiency in aldolase B results in the underutilization of the glycolysis pathway and an accumulation of fructose-1-phosphate. Accumulation of fructose-1-phosphate has the unfortunate consequence of inhibiting gluconeogenesis, making patients susceptible to episodes of hypoglycemia and lactic acidosis. Other abnormalities include signs and symptoms of liver dysfunction, such as vomiting and failure to thrive.

tags: oneliner