Carbohydrate Metabolism Case Studies - PDF
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This document presents a series of case reports focused on carbohydrate metabolism disorders. The cases cover conditions such as lactose intolerance, galactosemia, diabetic ketoacidosis, and renal glycosuria. Each case includes patient history, laboratory results, and questions for analysis and diagnosis, providing valuable practice for medical students.
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CASE REPORT 2 A child was brought to the hospital with diarrhea, abdominal discomfort and pain after ingestion of diary products. O/E ,CF – signs of dehydration + The stool was positive for reducing sugar. 1. What could be the most likely diagnosis? Lactose Intolerance due to deficiency...
CASE REPORT 2 A child was brought to the hospital with diarrhea, abdominal discomfort and pain after ingestion of diary products. O/E ,CF – signs of dehydration + The stool was positive for reducing sugar. 1. What could be the most likely diagnosis? Lactose Intolerance due to deficiency of an enzyme “Lactase”. 2. What is the reducing sugar present in the urine? Lactose 3. Why diarrhea is seen in his condition? Since lactose is osmotically active, diarrhea is present in lactose intolerance. CASE REPORT 2 A 4 year old boy with retarded growth was brought to the hospital with a complaint of diarrhea. On examination, he was found to have cataract in the eye. Urine examination showed reduction with benedicts reagent but not with glucose oxidase method. 1. Analyze the case and give probable diagnosis. GALACTOSEMIA 2. What is the enzyme defect in this case? Galactose – 1 – phosphate – uridyltransferase 3. What is the biochemical basis of cataract in this case? Galactose is reduced to dulcitol. The accumulation of dulcitol in the lens leads to congenital cataract. CASE REPORT 1 An 8 year old girl was brought to the hospital in coma state. The mother gave history of weight loss of her daughter sine last 3 months. Her breathing was rapid, deep and breath had fruity smell. Following are the laboratory results. INVESTIGATIONS REPORT Blood glucose 380 mg/dl Blood pH 7.30 Plasma HCO3 15 mEq/l Urine - Benedict’s test Brick red Urine - Rothera’s test Positive 1. Analyse the case and give probable diagnosis. DIABETIC KETOACIDOSIS 2. What is the reason of decreased pH in this case? Due to the over production of the Acetoacetate and β – hydroxyl butyric acid 3. What is the reason for positive Rothera’s test? Due to the excretion of ketone bodies in urine. 4. What is the normal blood glucose level and blood pH? FBS – 70 – 110 mg/dl RBS – 80 – 140 mg/dl PPBS -
