A 7-month-old infant who was recently staed on top feeds, presented with diarrhea, vomiting, nausea, abdominal pain and distension leading to poor feeding and poor weight gain. On examination hepatosplenomegaly was observed. Lab findings Blood sugar- decreased Serum bilirubin- increased Uric acid-increased. Urine- a reducing substance was found during the episode of hypoglycemia. All of the following statements are true about the following condition except: -
This is a case of hereditary fructose intolerance because the age of presentation is after 6 months as after 6 months fructose containing food are introduced into the diet. It occurs due to the deficiency aldolase B enzyme. Aldolase B catalyzes the conversion of fructose- 1,6-bisphosphate into triose phosphate and glyceraldehyde phosphate It leads to profound hypoglycemia and vomiting after consumption of fructose (or sucrose, which yields fructose on digestion). OPTION B is essential fructosuria which is due to the deficiency of fructokinase which conves fructose into fructose-1-phosphate and is an asymptomatic condition. OPTION C is classical galactosemia due to the deficiency of galactose-1 phosphate uridyl transferase and usually presents in the 2nd week of life and not after 6 months and presents with jaundice, hepatomegaly, vomiting, hypoglycemia, seizures, hepatic failure, ascites, splenomegaly, or intellectual disability. OPTION D is galactokinase deficiency and presents with increased galactose levels in serum if the child consumes a high lactose diet.
The enzyme involved catalyzes the hydrolysis of fructose- 1,6-bisphosphate into triose phosphate and glyceraldehyde phosphate.
The enzyme involved catalyzes the conversion of fructose to fructose-1 phosphate
The enzyme involved catalyzes the conversion of galactose-1-phosphate to glucose-1-phospate.
The enzyme involved catalyzes the conversion of galactose to galactose-1-phosphate
Integrated QBank