The metabolic defect in HEREDITARY FRUCTOSE INTOLERANCE is due to deficiency of enzyme:
Ans. (b) Aldolase-BRef : OP Ghai 8th ed./696* Hereditary fructose intolerance, or the presence of fructose in the blood (fructosemia), is caused by a deficiency of aldolase B, the second enzyme involved in the metabolism of fructose. This enzyme deficiency results in an accumulation of fructose-1-phosphate, which inhibits the production of glucose and results in diminished regeneration of adenosine triphosphate. Clinically, patients with hereditary fructose intolerance are much more severely affected than those with essential fructosuria, with elevated uric acid, growth abnormalities and can result in coma if untreated.Remember and Don't Confuse with:* Essential fructosuria caused by a deficiency of the enzyme hepatic fructokinase is a clinically benign condition characterized by the incomplete metabolism of fructose in the liver, leading to its excretion in urine.
Fructokinase
Aldolase-B
Xylitol dehydrogenase
Phosphofructokinase
Inborn Errors of Metabolism