THEME AND FOCUS: METABOLISM OF CARBOHYDRATES Case Study: A 3 year old boy was brought to the emergency depament after several episodes of vomiting and lethargy. He was also found to have hypoglycemia. His pediatrician was concerned about possible hepatic failure along with recurrent episodes of vomiting and lethargy. After a careful history, it was observed that these episodes occur after ingestion of sweets or fruits. Lead Question: What is the most likely diagnosis?
Correct Answer: Hereditary Fructose Intolerance
Description: Disorders Hereditary fructose intolerance Autosomal Recessive By deficiency of aldolase B. Asymptomatic until they ingest fructose Patient has jaundice, hepatomegaly and hypoglycemia. Fructose-1-phosphate is accumulated, which inhibits glycogen phosphorylase. Galactosemia galactose + blood - accumulation of galactose in blood due to defect in galactose metabolism. The most common enzyme which is deficient is GALIPUT (Galactose-1-phosphate uridyl transferase). Glycogen storage disease type III also known as GSD-III or Cori's disease deficiency of debranching enzyme, Limit dextrins are accumulated in liver- hepatomegaly. Fructosuria benign condition, enzyme deficient is fructokinase.
Category:
Biochemistry
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