Carbohydrate Metabolism Practice Questions

Q: A 6-month-old child presents with episodes of vomiting after ingesting fruit juice. Which of the following enzyme deficiencies is likely?

Aldolase. **Explanation:** The clinical presentation of vomiting after the ingestion of fruit juice (which contains fructose) in a 6-month-old infant is a classic hallmark of **Hereditary Fructose Intolerance (HFI)**. This condition typically manifests when weaning begins and the infant is introduced to fruits or sweetened formulas. **1. Why Aldolase B is correct:** HFI is caused by a deficiency of **Aldolase B**. In the liver, fructose is converted to Fructose-1-Phosphate (F1P) by fructokinase. Aldolase B is responsible for cleaving F1P into DHAP and glyceraldehyde. When Aldolase B is deficient, **Fructose-1-Phosphate accumulates** intracellularly. This "traps" inorganic phosphate, leading to ATP depletion, inhibition of glycogenolysis, and gluconeogenesis, resulting in severe hypoglycemia, vomiting, and jaundice. **2. Why other options are incorrect:** * **Fructokinase:** Deficiency causes **Essential Fructosuria**. This is a benign, asymptomatic condition where fructose is excreted in the urine. It does not cause vomiting or metabolic distress. * **Glucose 6-phosphatase:** Deficiency leads to **Von Gierke Disease (GSD Type I)**. While it causes severe hypoglycemia, it is triggered by fasting, not specifically by fruit juice ingestion. * **Hexokinase:** This enzyme has a low affinity for fructose and is not the primary pathway for fructose metabolism in the liver; its deficiency does not present with these symptoms. **High-Yield NEET-PG Pearls:** * **The "Trapping" Mechanism:** Accumulation of F1P is the toxic event in HFI. * **Diagnosis:** Reducing sugars in urine (Clinitest positive) but a negative glucose oxidase test (Dipstick negative). * **Treatment:** Strict avoidance of fructose, sucrose (glucose + fructose), and sorbitol. * **Mnemonic:** "Fructose is **B**ad" = Aldolase **B** deficiency.

Q: Biosynthesis of glucuronic acid requires the:

Oxidation of UDP glucose. ### Explanation The biosynthesis of **Glucuronic acid** occurs via the **Uronic Acid Pathway**. This pathway is essential for the production of UDP-glucuronate, which serves as a precursor for proteoglycans and plays a critical role in detoxification reactions. **Why Option A is Correct:** The key regulatory step in this pathway is the conversion of **UDP-glucose to UDP-glucuronate**. This reaction is catalyzed by the enzyme **UDP-glucose dehydrogenase**. During this process, the primary alcohol group at carbon-6 of the glucose moiety is oxidized to a carboxyl group. This reaction requires **NAD+** as a co-factor (reducing it to NADH). **Why Other Options are Incorrect:** * **Option B (Glucose 6-phosphate):** Oxidation of G6P occurs in the Pentose Phosphate Pathway (PPP) by G6PD to form 6-phosphogluconolactone, not glucuronic acid. * **Option C (6-phosphogluconate):** This is an intermediate of the PPP. Its oxidation leads to the formation of Ribulose 5-phosphate and CO₂. * **Option D (Glucose):** Direct oxidation of glucose at C-1 yields gluconic acid, while oxidation at C-6 yields glucuronic acid; however, in the human body, this does not occur via "free" glucose but specifically through the **UDP-bound form**. **High-Yield Clinical Pearls for NEET-PG:** 1. **Conjugation:** UDP-glucuronate is essential for the conjugation of **bilirubin** (forming bilirubin diglucuronide) and various drugs (e.g., morphine, steroids) to make them water-soluble for excretion. 2. **Vitamin C Connection:** In most animals, the uronic acid pathway leads to **Ascorbic acid** synthesis. However, **humans lack the enzyme L-gulonolactone oxidase**, making Vitamin C an essential dietary requirement. 3. **Essential Pentosuria:** A deficiency of **Xylitol dehydrogenase** in this pathway leads to the excretion of L-xylulose in urine (a benign condition).

Q: A 19-year-old man presents with early fatigue and muscle cramps during sports. He is asymptomatic during walking or less intense activities. Physical examination and vital signs are normal. Muscle bulk, tone, and strength in proximal muscles are normal, with no fatigue during repetitive arm grip exercises. Following an exercise stress test, his serum creatine kinase (CK) is elevated, and lactate level is normal. Which of the following is the most likely diagnosis?

McArdle disease (glycogen storage disease). The clinical presentation of exercise-induced fatigue, muscle cramps, and elevated creatine kinase (CK) with a **normal lactate response** is classic for **McArdle disease (Glycogen Storage Disease Type V)** [1]. **1. Why McArdle Disease is Correct:** McArdle disease is caused by a deficiency of **myophosphorylase**, the enzyme responsible for breaking down glycogen into glucose-1-phosphate in muscles. During high-intensity exercise, muscles rely on glycogenolysis for energy [2]. In its absence, patients experience "exercise intolerance" and cramps. A hallmark diagnostic finding is the **failure of blood lactate to rise** during an ischemic exercise test because the metabolic block prevents the conversion of glycogen to glucose, and subsequently to lactate [1]. The "second wind" phenomenon (improvement in symptoms after 10–15 minutes of exercise due to increased fatty acid delivery) is also characteristic. **2. Why Other Options are Incorrect:** * **Gaucher Disease:** A lysosomal storage disease (glucocerebrosidase deficiency) characterized by hepatosplenomegaly, bone pain (Erlenmeyer flask deformity), and cytopenias, not exercise-induced muscle cramps. * **Tay-Sachs Disease:** A neurodegenerative condition (hexosaminidase A deficiency) presenting in infancy with developmental regression, cherry-red spots on the macula, and seizures. * **Hemochromatosis:** An iron overload disorder leading to "bronze diabetes," cirrhosis, and cardiomyopathy. It does not typically present with acute exercise-induced muscle breakdown. **Clinical Pearls for NEET-PG:** * **Enzyme Defect:** Myophosphorylase (Muscle Phosphorylase) [1]. * **Biochemical Marker:** Flat lactate curve with a significant rise in ammonia during exercise. * **Key Symptom:** "Second Wind" phenomenon. * **Complication:** Risk of rhabdomyolysis and myoglobinuria (red-brown urine) after intense exertion.

Q: A 6-month-old male infant presents with vomiting, lethargy, and severe jaundice upon initiation of weaning with fruit juice. Which of the following enzymes is defective?

Aldolase B. **Explanation:** The clinical presentation of vomiting, lethargy, and jaundice triggered by the introduction of fruit juice (which contains fructose) in a 6-month-old infant is a classic description of **Hereditary Fructose Intolerance (HFI)**. **Why Aldolase B is correct:** HFI is caused by a deficiency of **Aldolase B**. In the liver, fructose is converted to Fructose-1-Phosphate (F1P) by fructokinase. Aldolase B is responsible for cleaving F1P into DHAP and glyceraldehyde. When Aldolase B is defective, **Fructose-1-Phosphate accumulates** intracellularly. This "traps" inorganic phosphate, leading to ATP depletion. The lack of ATP inhibits gluconeogenesis and glycogenolysis, resulting in severe postprandial hypoglycemia, liver damage (jaundice), and proximal renal tubular dysfunction. **Why other options are incorrect:** * **Fructokinase (Essential Fructosuria):** This is a benign, asymptomatic condition. Fructose is not trapped in cells but is excreted in the urine. There is no hypoglycemia or liver damage. * **Aldolase A:** This enzyme is primarily found in muscle and erythrocytes; its deficiency leads to hemolytic anemia and myopathy, not fructose intolerance. * **Sucrase:** Deficiency leads to osmotic diarrhea and flatulence due to malabsorption of sucrose, but it does not cause systemic toxicity or jaundice. **NEET-PG High-Yield Pearls:** * **The Trigger:** Symptoms appear only after weaning (introduction of fruits/sucrose-containing formula). * **The Mechanism:** "Phosphate Trapping" is the hallmark of HFI. * **Diagnosis:** Reducing sugars in urine (Clinitest positive) but Glucose Oxidase test (Dipstick) negative. * **Management:** Strict avoidance of Fructose, Sucrose, and Sorbitol.

Q: A histological section of the left ventricle of a deceased 28-year-old male shows classic contraction band necrosis of the myocardium. Biological specimens confirm the presence of cocaine and metabolites. Activity of which of the following enzymes was most likely increased in the patient's myocardial cells shortly prior to his death?

Phosphofructokinase-1. **Explanation:** The clinical presentation describes a cocaine-induced myocardial infarction. Cocaine is a potent sympathomimetic that causes severe coronary vasospasm and increased myocardial oxygen demand, leading to **ischemia**. In ischemic conditions, oxygen delivery to the myocardium is severely restricted, halting oxidative phosphorylation. To maintain ATP levels, the cell shifts from aerobic metabolism to **anaerobic glycolysis**. The rate-limiting enzyme of glycolysis is **Phosphofructokinase-1 (PFK-1)**. During ischemia, the drop in ATP and the rise in AMP (adenosine monophosphate) potently activate PFK-1 to accelerate glucose breakdown for energy. Therefore, PFK-1 activity would be significantly increased shortly before death. **Analysis of Incorrect Options:** * **A. Phosphoenolpyruvate carboxykinase (PEPCK):** This is a key enzyme in gluconeogenesis (primarily in the liver/kidney). It is not induced by myocardial ischemia. * **C. Pyruvate dehydrogenase (PDH):** This enzyme converts pyruvate to Acetyl-CoA for the TCA cycle. In anaerobic conditions, PDH is inhibited by high NADH/NAD+ ratios and lactic acidosis; pyruvate is instead diverted to lactate. * **D. Succinate dehydrogenase:** A component of the TCA cycle and Complex II of the electron transport chain. Its activity requires oxygen and would be decreased, not increased, during ischemia. **High-Yield Clinical Pearls for NEET-PG:** * **PFK-1 Regulation:** Stimulated by AMP and Fructose-2,6-bisphosphate; inhibited by ATP and Citrate. * **Contraction Band Necrosis:** A hallmark of reperfusion injury or catecholamine-induced (e.g., cocaine, pheochromocytoma) myocardial damage. It results from hypercontraction of myofibrils due to calcium influx. * **Ischemic Shift:** In ischemia, the heart shifts from its preferred fuel (Fatty Acids) to Glucose (Glycolysis) because glycolysis requires less oxygen per mole of ATP produced.

Q: What is the primary function of NADPH in red blood cells?

To produce ATP. **Explanation:** The primary function of **NADPH** (Nicotinamide Adenine Dinucleotide Phosphate) in red blood cells is to maintain a pool of **reduced glutathione**, which is essential for neutralizing reactive oxygen species (ROS) like hydrogen peroxide [2]. 1. **Why Option C is Correct (Reductive Biosynthesis):** In the context of general biochemistry, NADPH is the universal electron donor for **reductive biosynthesis** (e.g., fatty acid and steroid synthesis) [1]. In RBCs, specifically, it provides the reducing equivalents necessary to convert oxidized glutathione (GSSG) back to reduced glutathione (GSH) via the enzyme *Glutathione Reductase* [2]. This protects hemoglobin and membrane lipids from oxidative damage [2]. 2. **Why other options are incorrect:** * **Option A:** ATP in RBCs is produced via the **Embden-Meyerhof pathway** (anaerobic glycolysis), not by NADPH. * **Option B:** While NADPH indirectly helps maintain membrane integrity by preventing lipid peroxidation, its primary biochemical role is as a reducing agent [1], [2]. * **Option D:** NADPH does not prevent G6PD deficiency; rather, G6PD is the enzyme required to *produce* NADPH via the Hexose Monophosphate (HMP) Shunt [2]. **NEET-PG High-Yield Pearls:** * **G6PD Deficiency:** The most common enzymopathy worldwide. Since RBCs lack mitochondria, the **HMP Shunt** is their *only* source of NADPH [2]. * **Heinz Bodies:** Denatured hemoglobin precipitates formed due to oxidative stress in the absence of sufficient NADPH/Glutathione [2]. * **Bite Cells:** Formed when splenic macrophages pluck out Heinz bodies from RBCs. * **Drug Triggers:** Oxidative drugs like **Primaquine, Sulfonamides, Dapsone, and Nitrofurantoin** can precipitate hemolysis in G6PD-deficient individuals [2].

Q: Von Gierke's disease occurs due to deficiency of which enzyme?

Glucose-6-phosphatase. **Explanation:** **Von Gierke’s Disease (GSD Type I)** is the most common glycogen storage disease. It is caused by a deficiency of **Glucose-6-phosphatase**, the enzyme responsible for converting Glucose-6-phosphate into free glucose. This enzyme is primarily located in the liver and kidneys. Since this is the final step in both glycogenolysis and gluconeogenesis, its deficiency leads to severe fasting hypoglycemia and massive accumulation of glycogen in the liver. **Analysis of Options:** * **Option A (Correct):** Glucose-6-phosphatase deficiency prevents the liver from releasing glucose into the blood, leading to the classic triad of hepatomegaly, hypoglycemia, and lactic acidosis. * **Option B (Incorrect):** Deficiency of **Liver phosphorylase** causes **Hers disease (GSD Type VI)**, which presents with a milder clinical course than Von Gierke’s. * **Option C (Incorrect):** Deficiency of **Muscle phosphorylase** causes **McArdle disease (GSD Type V)**, characterized by exercise-induced cramps and myoglobinuria, but no hypoglycemia. * **Option D (Incorrect):** Deficiency of the **Debranching enzyme** (α-1,6-glucosidase) causes **Cori disease (GSD Type III)**, where glycogen has abnormally short outer branches (limit dextrins). **High-Yield Clinical Pearls for NEET-PG:** * **Biochemical Hallmarks:** Hyperuricemia (due to increased PPP shunt), Hyperlipidemia (increased VLDL), and Lactic Acidosis. * **Clinical Presentation:** "Doll-like" facies (fat deposition), protuberant abdomen (massive hepatomegaly), and stunted growth. * **Treatment:** Frequent oral glucose/cornstarch and avoidance of fructose/galactose (which cannot be converted to glucose).

Q: What is the primary source of readily available energy for most cells in the body?

Glycogen. **Explanation:** The correct answer is **Glycogen**. **Why Glycogen is Correct:** Glycogen is a highly branched polymer of glucose that serves as the primary storage form of carbohydrates in animals. It is considered the "readily available" energy source because it can be rapidly mobilized through **glycogenolysis**. Unlike fats, glycogen can be broken down into glucose-6-phosphate, which enters glycolysis to produce ATP even in **anaerobic conditions**. This rapid mobilization is essential for maintaining blood glucose levels (via the liver) and providing immediate fuel for muscle contraction. **Why Other Options are Incorrect:** * **A. Fat (Triacylglycerols):** While fats provide the highest energy yield (9 kcal/g) and represent the body's largest energy reserve, they are mobilized slowly. They require oxygen for oxidation (aerobic only) and cannot be used as a rapid source of energy during high-intensity bursts. * **C. Lactate:** Lactate is a metabolic byproduct of anaerobic glycolysis. While it can be converted back to glucose in the liver via the **Cori Cycle**, it is a substrate for gluconeogenesis rather than a primary storage form of energy. * **D. Ketones:** Ketone bodies (e.g., acetoacetate, β-hydroxybutyrate) are alternative fuels produced during starvation or prolonged fasting. They are not the "primary" or "readily available" source under normal physiological conditions. **High-Yield NEET-PG Pearls:** * **Storage Sites:** The liver has the highest *concentration* of glycogen, but skeletal muscle contains the largest *total amount* due to its greater mass. * **Key Enzyme:** **Glycogen phosphorylase** is the rate-limiting enzyme of glycogenolysis, activated by glucagon and epinephrine. * **Muscle vs. Liver:** Muscle glycogen lacks **Glucose-6-phosphatase**; therefore, it cannot contribute to blood glucose and is used exclusively for local muscle contraction.

Question 1

A 6-month-old child presents with episodes of vomiting after ingesting fruit juice. Which of the following enzyme deficiencies is likely?

Accepted Answer

Aldolase

Answer

Fructokinase

Answer

Glucose 6-phosphatase

Answer

Hexokinase

Question 2

Within the RBC, hypoxia stimulates glycolysis by which of the following regulating pathways?

Accepted Answer

Hypoxia stimulates release of all glycolytic enzymes from band 3 on the RBC membrane.

Answer

Hypoxia stimulates pyruvate dehydrogenase by increased 2,3 DPG.

Answer

Hypoxia inhibits hexokinase.

Answer

Activation of the regulatory enzymes by high pH.

Question 3

Biosynthesis of glucuronic acid requires the:

Accepted Answer

Oxidation of UDP glucose

Answer

Oxidation of glucose 6-phosphate

Answer

Oxidation of 6-phosphogluconate

Answer

Oxidation of glucose

Question 4

A 19-year-old man presents with early fatigue and muscle cramps during sports. He is asymptomatic during walking or less intense activities. Physical examination and vital signs are normal. Muscle bulk, tone, and strength in proximal muscles are normal, with no fatigue during repetitive arm grip exercises. Following an exercise stress test, his serum creatine kinase (CK) is elevated, and lactate level is normal. Which of the following is the most likely diagnosis?

Accepted Answer

McArdle disease (glycogen storage disease)

Answer

Gaucher disease

Answer

Tay-Sachs disease

Answer

Hemochromatosis

Question 5

A 6-month-old male infant presents with vomiting, lethargy, and severe jaundice upon initiation of weaning with fruit juice. Which of the following enzymes is defective?

Accepted Answer

Aldolase B

Answer

Fructokinase

Answer

Aldolase A

Answer

Sucrase

Question 6

A histological section of the left ventricle of a deceased 28-year-old male shows classic contraction band necrosis of the myocardium. Biological specimens confirm the presence of cocaine and metabolites. Activity of which of the following enzymes was most likely increased in the patient's myocardial cells shortly prior to his death?

Accepted Answer

Phosphofructokinase-1

Answer

Phosphoenolpyruvate carboxykinase

Answer

Pyruvate dehydrogenase

Answer

Succinate dehydrogenase

Question 7

What is the primary function of NADPH in red blood cells?

Accepted Answer

To produce ATP

Answer

To stabilize the red blood cell membrane

Answer

To facilitate reductive biosynthesis

Answer

To prevent G6PD deficiency

Question 8

Von Gierke's disease occurs due to deficiency of which enzyme?

Accepted Answer

Glucose-6-phosphatase

Answer

Liver phosphorylase

Answer

Muscle phosphorylase

Answer

Debranching enzyme

Question 9

What is the primary source of readily available energy for most cells in the body?

Accepted Answer

Glycogen

Answer

Fat

Answer

Lactate

Answer

Ketone

Question 10

Arrange the following 4 enzymes of gluconeogenesis in sequence:

Accepted Answer

Pyruvate carboxylase - Phosphoenol pyruvate carboxy kinase - Fructose 1,6 Bisphosphatase - Glucose - 6 - phosphatase

Answer

Fructose 1,6 Bisphosphatase - Phosphoenol pyruvate carboxy kinase - Pyruvate carboxylase - Glucose - 6 - phosphatase

Answer

Glucose - 6 - phosphatase - Pyruvate carboxylase - Fructose 1,6 Bisphosphatase - Phosphoenol pyruvate carboxy kinase

Answer

Phosphoenol pyruvate carboxy kinase - Fructose 1,6 Bisphosphatase - Glucose - 6 - phosphatase - Pyruvate carboxylase

Carbohydrate Metabolism — MCQs

Carbohydrate Metabolism — MCQs

On this page

Practice by Chapter

Want unlimited practice?