Carbohydrate Metabolism Practice Questions

Q: Evaluate the metabolic impact of a mutation in the gene encoding pyruvate dehydrogenase. Which dietary intervention would be most appropriate for managing the symptoms?

High-fat diet. ***High-fat diet*** - A mutation in **pyruvate dehydrogenase (PDH)** impairs the conversion of pyruvate to acetyl-CoA, thus preventing carbohydrates from being efficiently used for energy via the **Krebs cycle**. - A **high-fat diet** provides an alternative energy source through **beta-oxidation of fatty acids**, which produces acetyl-CoA directly, bypassing the defective PDH complex and supporting ATP production. *High-carbohydrate diet* - This would exacerbate the metabolic problems, as carbohydrates are broken down into **pyruvate**, which cannot be efficiently processed due to the compromised **pyruvate dehydrogenase complex**. - It would lead to an accumulation of **lactic acid** and **pyruvate**, contributing to **lactic acidosis** and neurological dysfunction. *High-protein diet* - While amino acids can enter the Krebs cycle at various points, a **high-protein diet** is not the primary or most efficient bypass for a **pyruvate dehydrogenase deficiency**. - Excessive protein intake can also lead to other metabolic burdens, such as increased nitrogenous waste, which may not be ideal. *Low-fat diet* - A **low-fat diet** would limit the primary alternative energy source for individuals with compromised **pyruvate dehydrogenase**, thus worsening energy deficits. - It would force the body to rely more heavily on the impaired carbohydrate metabolism, leading to more severe symptoms.

Q: Galactosemia is due to deficiency of which enzyme?

Galactose-1-phosphate uridyltransferase. ***Galactose-1-phosphate uridyltransferase*** - Deficiency of **galactose-1-phosphate uridyltransferase (GALT)** leads to the most severe form, **classic galactosemia**. - This enzyme is crucial for converting **galactose-1-phosphate** to **glucose-1-phosphate** in the Leloir pathway. *HGPRT* - **HGPRT** (hypoxanthine-guanine phosphoribosyltransferase) deficiency causes **Lesch-Nyhan syndrome**, a distinct metabolic disorder. - Lesch-Nyhan syndrome is characterized by **hyperuricemia**, neurological dysfunction, and self-mutilation, unrelated to galactose metabolism. *Galactokinase* - Deficiency of **galactokinase** causes Type II galactosemia, a milder form than classic galactosemia. - This defect primarily leads to **cataracts** due to galactitol accumulation but does not result in the severe systemic issues seen in classic galactosemia. *Epimerase* - Deficiency of **UDP-galactose-4'-epimerase** (GALE) causes Type III galactosemia, which has a variable clinical presentation from mild to severe. - While involved in galactose metabolism, it's not the primary enzyme deficient in the most common and severe form of **galactosemia**.

Q: A 3 months old child was started on supplemental foods along with breastmilk. The child was fed with fruit pulp and sweetened cereals. Soon the child developed bloating of abdomen, vomiting, lethargy, and irritability. On investigation, there was hyperbilirubinemia and elevated transaminase levels. The child is suffering from which of the following enzyme deficiencies?

Aldolase B. ***Aldolase B*** - This presentation is characteristic of **hereditary fructose intolerance**, an autosomal recessive disorder caused by a deficiency of **aldolase B**. - Infants typically appear normal until fructose or sucrose (hydrolyzed to glucose and fructose) is introduced into their diet, leading to symptoms like **vomiting**, **bloating**, **lethargy**, and **liver and kidney dysfunction** (hyperbilirubinemia, elevated transaminases). ***Fructokinase*** - Deficiency in fructokinase causes **essential fructosuria**, a benign condition where fructose accumulates in the blood and urine. - It does not lead to the severe gastrointestinal or hepatic symptoms described, as fructose metabolism is not completely blocked. ***Galactokinase*** - Deficiency of galactokinase results in **Type II galactosemia**, primarily causing **cataracts** due to galactitol accumulation. - While galactosemia can present with liver dysfunction, it typically involves lactose intolerance from breastmilk or formula and doesn't align with the introduction of fruit pulp and sweetened cereals as the trigger. ***Galactose-1-phosphate uridyl transferase*** - Deficiency of this enzyme causes **Classic Galactosemia (Type I)**, a severe genetic disorder often diagnosed early due to intolerance to lactose in breast milk or formula. - Symptoms include **vomiting**, **jaundice**, **hepatomegaly**, and **failure to thrive**, with potential for severe complications if untreated. However, the trigger of fruit pulp and sweetened cereals (sources of fructose/sucrose) more strongly points away from galactosemia and towards fructose intolerance.

Q: Which enzyme deficiency is associated with increased susceptibility to infections, including E. coli?

Glucose-6-phosphate dehydrogenase (G6PD) deficiency. ***Glucose-6-phosphate dehydrogenase (G6PD) deficiency*** - G6PD deficiency impairs the **pentose phosphate pathway**, reducing the production of **NADPH** in phagocytes. - Reduced **NADPH** leads to an inability to generate a robust **respiratory burst** required to kill pathogens like *E. coli*, thereby increasing susceptibility to infections. *Lactase deficiency* - This deficiency affects the digestion of **lactose**, leading to gastrointestinal symptoms such as bloating and diarrhea. - It does not directly impact the **immune system's ability to combat bacterial infections**. *Pepsin deficiency* - Pepsin is a gastric enzyme essential for **protein digestion** in the stomach. - While it can lead to impaired protein breakdown, it is not directly linked to an increased susceptibility to **bacterial infections** like *E. coli*. *Trypsin deficiency* - Trypsin is a pancreatic enzyme crucial for **protein digestion** in the small intestine. - Its deficiency affects nutrient absorption but does not directly compromise the **innate immune response** against bacteria.

Q: Neonatal hypoglycemia that does not respond to treatment with counter-regulatory hormones is diagnostic of which condition?

Von Gierke's disease. ***Von Gierke's disease*** - This condition (Glycogen Storage Disease Type I) results from a **deficiency of glucose-6-phosphatase**, essential for releasing glucose from the liver. - The inability to produce free glucose from glycogen or gluconeogenesis leads to severe hypoglycemia that **does not respond to counter-regulatory hormones** like glucagon, as the enzyme needed for glucose release is non-functional. *Hereditary fructose intolerance* - This condition involves a deficiency in **aldolase B**, leading to the accumulation of fructose-1-phosphate after fructose ingestion. - While it can cause hypoglycemia, it generally occurs after **fructose exposure** and is not characterized by hypoglycemia refractory to counter-regulatory hormones in the neonatal period without such exposure. *Cori's disease (Glycogen storage disease type III)* - Caused by a deficiency in the **glycogen debranching enzyme**, leading to the accumulation of abnormal glycogen. - Patients can present with hypoglycemia, but often respond to glucagon administration, as the remaining glycogen structure can still be partially broken down, unlike in Von Gierke's. *Anderson's disease (Glycogen storage disease type IV)* - Result of a deficiency in the **glycogen branching enzyme**, leading to the formation of abnormally structured glycogen with long, unbranched chains. - This disease primarily affects the liver and muscles, causing **cirrhosis** and muscle weakness, and typically does not present with severe, refractory neonatal hypoglycemia as the primary or most characteristic symptom.

Q: In glycogen synthesis the active form of glucose used is-

UDP glucose. **UDP glucose** - **UDP-glucose** (uridine diphosphate glucose) is the activated form of glucose that donates glucose units for the elongation of the **glycogen chain** during glycogen synthesis. - The formation of UDP-glucose from **glucose-1-phosphate** and **UTP** (uridine triphosphate) is catalyzed by UDP-glucose pyrophosphorylase, making glucose-1-phosphate a precursor, not the active form. *Glucose 6 phosphate* - **Glucose 6-phosphate** is an important intermediate in glycolysis and gluconeogenesis, and it can be isomerized to glucose 1-phosphate, but it is not the direct substrate for glycogen synthase. - Its formation is the first committed step in glucose metabolism within the cell, trapping glucose inside. *Glucose I phosphate* - **Glucose 1-phosphate** is a precursor to UDP-glucose, formed from glucose 6-phosphate by **phosphoglucomutase**. - While essential for glycogen synthesis, it is not the directly active form that donates glucose to the glycogen chain itself. *GTP glucose* - **GTP glucose** is not a known active form of glucose involved in glycogen synthesis. - **GTP** (guanosine triphosphate) is primarily involved in other metabolic processes, such as protein synthesis and signal transduction.

Q: Which among the following glucose transporters is present in beta cells?

GLUT2. ***GLUT2*** - **GLUT2** is a **low-affinity** glucose transporter predominantly found in pancreatic **beta cells**, liver, kidneys, and intestines. - Its low affinity allows beta cells to accurately sense high blood glucose levels, triggering **insulin release**. *GLUT1* - **GLUT1** is a widely distributed glucose transporter found in nearly all mammalian cells, including **red blood cells** and cells of the **blood-brain barrier**. - It exhibits **high affinity** for glucose, responsible for basal glucose uptake. *GLUT3* - **GLUT3** is a high-affinity glucose transporter primarily found in **neurons** and the **placenta**. - Its high affinity ensures a constant glucose supply to these metabolically demanding tissues, even at low blood glucose concentrations. *GLUT4* - **GLUT4** is an **insulin-sensitive** glucose transporter found in **adipose tissue** and **striated muscle** (skeletal and cardiac). - Its translocation to the cell surface from intracellular vesicles is stimulated by insulin, promoting glucose uptake into these tissues.

Q: Which glucose transporter is primarily affected in diabetes mellitus?

GLUT-4. ***GLUT-4*** - **GLUT-4** is the primary glucose transporter in **insulin-sensitive** tissues such as muscle and adipose tissue. - In **diabetes mellitus**, impaired insulin signaling leads to reduced translocation of GLUT-4 to the cell membrane, resulting in decreased glucose uptake by these tissues and subsequently **hyperglycemia**. *GLUT-2* - **GLUT-2** is found in the **liver**, **pancreatic beta cells**, kidneys, and small intestine. - It has a low affinity for glucose and is primarily involved in **high-capacity glucose transport**, serving as a glucose sensor in beta cells and allowing efficient glucose uptake/release in the liver. *GLUT-5* - **GLUT-5** is a fructose transporter predominantly found in the **small intestine** and testes. - It is responsible for the absorption of **fructose** from the diet and is not directly involved in glucose regulation relevant to diabetes mellitus. *SGLT-2* - **SGLT-2** (Sodium-Glucose Co-transporter 2) is found in the **proximal tubules of the kidneys**. - It is responsible for reabsorbing approximately 90% of the **filtered glucose** from the renal filtrate back into the bloodstream, and its inhibition is a therapeutic target in diabetes.

Q: What is the biochemical structure of cellulose?

β (1,4) glucose. ***β (1,4) glucose*** - Cellulose is a linear polysaccharide made of repeating **glucose units** joined by **β-1,4 glycosidic bonds**. - This specific linkage allows for strong hydrogen bonding between adjacent cellulose chains, contributing to its structural rigidity in plant cell walls. *α (1,4) glucose* - This linkage is characteristic of starch (amylose) and glycogen, forming helical structures that are readily digestible by humans. - Unlike cellulose, these **α-1,4 linkages** result in a coiled, rather than linear, polysaccharide structure. *β (1,6) glucose* - While beta linkages are present in some polysaccharides, the **β-1,6 linkage** is not the primary linkage for the main chain of cellulose. - This linkage is primarily found at branch points in certain complex carbohydrates. *α (1,6) glucose* - This linkage forms branch points in branched polysaccharides like amylopectin (a component of starch) and glycogen. - It allows for a more compact and easily accessible energy storage molecule, very different from the structural role of cellulose.

Q: Which of the following is NOT a key enzyme of gluconeogenesis?

Pyruvate kinase. ***Pyruvate kinase*** - **Pyruvate kinase** is a key regulatory enzyme in **glycolysis**, catalyzing the irreversible conversion of phosphoenolpyruvate (PEP) to pyruvate. - Since gluconeogenesis is essentially the reversal of glycolysis, pyruvate kinase is **NOT involved in gluconeogenesis**. Instead, this glycolytic step must be bypassed by different enzymes. - This is the correct answer as it is NOT a key enzyme of gluconeogenesis. *Pyruvate carboxylase* - This **IS a key enzyme of gluconeogenesis**, converting **pyruvate to oxaloacetate** in the mitochondria, thereby bypassing the pyruvate kinase step of glycolysis. - It uses **biotin** as a coenzyme and requires ATP. - This is one of the four key regulatory enzymes unique to gluconeogenesis. *PEP carboxykinase* - This **IS a key enzyme of gluconeogenesis**, converting **oxaloacetate to phosphoenolpyruvate (PEP)**, bypassing the irreversible pyruvate kinase step of glycolysis. - This enzyme is located in both the cytoplasm and mitochondria, depending on the species (cytoplasmic in humans). - This is one of the four key regulatory enzymes unique to gluconeogenesis. *Glucose-6-phosphatase* - This **IS a key enzyme of gluconeogenesis**, catalyzing the final step by dephosphorylating **glucose-6-phosphate to free glucose**, enabling its release from the liver into the bloodstream. - This enzyme bypasses the irreversible hexokinase/glucokinase step of glycolysis. - Located in the endoplasmic reticulum, it is exclusively found in gluconeogenic tissues like the liver and kidney.

Question 1

Evaluate the metabolic impact of a mutation in the gene encoding pyruvate dehydrogenase. Which dietary intervention would be most appropriate for managing the symptoms?

Accepted Answer

High-fat diet

Answer

High-carbohydrate diet

Answer

High-protein diet

Answer

Low-fat diet

Question 2

Galactosemia is due to deficiency of which enzyme?

Accepted Answer

Galactose-1-phosphate uridyltransferase

Answer

HGPRT

Answer

Galactokinase

Answer

Epimerase

Question 3

A 3 months old child was started on supplemental foods along with breastmilk. The child was fed with fruit pulp and sweetened cereals. Soon the child developed bloating of abdomen, vomiting, lethargy, and irritability. On investigation, there was hyperbilirubinemia and elevated transaminase levels. The child is suffering from which of the following enzyme deficiencies?

Accepted Answer

Aldolase B

Answer

Fructokinase

Answer

Galactose - 1 - phosphate uridyl transferase

Answer

Galactokinase

Question 4

Which enzyme deficiency is associated with increased susceptibility to infections, including E. coli?

Accepted Answer

Glucose-6-phosphate dehydrogenase (G6PD) deficiency

Answer

Lactase deficiency

Answer

Pepsin deficiency

Answer

Trypsin deficiency

Question 5

Neonatal hypoglycemia that does not respond to treatment with counter-regulatory hormones is diagnostic of which condition?

Accepted Answer

Von Gierke's disease

Answer

Hereditary fructose intolerance

Answer

Cori's disease (Glycogen storage disease type III)

Answer

Anderson's disease (Glycogen storage disease type IV)

Question 6

In glycogen synthesis the active form of glucose used is-

Accepted Answer

UDP glucose

Answer

Glucose 6 phosphate

Answer

GTP glucose

Answer

Glucose 1 phosphate

Question 7

Which among the following glucose transporters is present in beta cells?

Accepted Answer

GLUT2

Answer

GLUT1

Answer

GLUT3

Answer

GLUT4

Question 8

Which glucose transporter is primarily affected in diabetes mellitus?

Accepted Answer

GLUT-4

Answer

GLUT-2

Answer

GLUT-5

Answer

SGLT-2

Question 9

What is the biochemical structure of cellulose?

Accepted Answer

β (1,4) glucose

Answer

β (1,6) glucose

Answer

α (1,6) glucose

Answer

α (1,4) glucose

Question 10

Which of the following is NOT a key enzyme of gluconeogenesis?

Accepted Answer

Pyruvate kinase

Answer

Pyruvate carboxylase

Answer

PEP carboxykinase

Answer

Glucose-6-phosphatase

Carbohydrate Metabolism — MCQs

Carbohydrate Metabolism — MCQs

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