Biochemistry of Disease: Interactive Learning Quizzes for Pharmacy Students

Question 1

Which of these is an example of an autosomal dominant genetic disease?

Accepted Answer

Huntington's disease

Answer

Sickle cell anemia

Answer

Cystic fibrosis

Answer

Tay-Sachs disease

Question 2

Which technique is commonly employed to diagnose genetic disorders?

Accepted Answer

Polymerase chain reaction (PCR)

Answer

Magnetic resonance imaging (MRI)

Answer

Electrocardiography (ECG)

Answer

Blood culture

Question 3

Which hormone plays a crucial role in regulating blood sugar levels?

Accepted Answer

Insulin

Answer

Glucagon

Answer

Thyroid hormone

Answer

Estrogen

Question 4

Which of the following is a primary manifestation of phenylketonuria (PKU)?

Accepted Answer

Intellectual disability

Answer

Skin rashes

Answer

Heart defects

Answer

Eye abnormalities

Question 5

Which enzyme deficiency is responsible for lactose intolerance?

Accepted Answer

Lactase

Answer

Sucrase

Answer

Amylase

Answer

Lipase

Question 6

Which of the following is a commonly used biochemical marker for assessing liver damage?

Accepted Answer

Alanine aminotransferase (ALT)

Answer

Creatinine

Answer

Sodium

Answer

White blood cell count

Question 7

Which technique is NOT commonly used in molecular diagnostics to identify genetic diseases?

Accepted Answer

Immunohistochemistry

Answer

DNA amplification

Answer

DNA sequencing

Question 8

Which of the following is a hallmark characteristic of metabolic disorders?

Accepted Answer

Defects in specific enzymes

Answer

Imbalanced hormone levels

Answer

Mutations in structural genes

Answer

Impaired membrane transport mechanisms

Question 9

What is the underlying biochemical abnormality in sickle cell anemia?

Accepted Answer

Mutation within the hemoglobin beta-globin gene

Answer

Iron deficiency

Answer

Abnormal production of white blood cells

Answer

Malnutrition-related anemia

Question 10

What is the primary role of the enzyme glucose-6-phosphate dehydrogenase?

Accepted Answer

Generation of NADPH

Answer

Production of glucose-6-phosphate

Answer

Breakdown of glucose

Answer

Regulation of blood glucose levels

Question 11

Which of the following is a commonly used marker for assessing liver health?

Accepted Answer

Alanine aminotransferase (ALT)

Answer

Creatine kinase (CK)

Answer

Troponin

Answer

C-reactive protein (CRP)

Question 12

Which of the following genetic mutations is associated with sickle cell disease?

Accepted Answer

A single nucleotide substitution in the β-globin gene

Answer

A deletion mutation in the α-globin gene

Answer

A translocation between chromosomes 11 and 15

Answer

A duplication mutation in the HBB gene

Question 13

Which of the following is NOT a risk factor for developing cardiovascular disease?

Accepted Answer

Regular exercise

Answer

Hypertension

Answer

High cholesterol

Answer

Smoking

Question 14

Which of the following is a key enzyme involved in fatty acid metabolism?

Accepted Answer

Lipase

Answer

Glucokinase

Answer

Lactate dehydrogenase

Answer

Pyruvate kinase

Question 15

Which of the following disorders is caused by a deficiency of the enzyme phenylalanine hydroxylase?

Accepted Answer

Phenylketonuria

Answer

Galactosemia

Answer

Tay-Sachs disease

Answer

Cystic fibrosis

Question 16

Which of the following is NOT considered a risk factor for the development of cardiovascular disease?

Accepted Answer

Regular physical activity

Answer

High cholesterol

Answer

Obesity

Answer

Diabetes

Question 17

Which enzyme is responsible for the breakdown of triglycerides?

Accepted Answer

Lipase

Answer

Protease

Answer

Amylase

Answer

Nuclease

Question 18

Cancer cells often exhibit increased activity of which biochemical pathway, often due to upregulation of oncogenes?

Accepted Answer

Glycolysis

Answer

Gluconeogenesis

Answer

Oxidative phosphorylation

Answer

Fatty acid oxidation

Question 19

Tay-Sachs disease, a lysosomal storage disorder, is caused by a deficiency in which enzyme?

Accepted Answer

Hexosaminidase A

Answer

Sphingomyelinase

Answer

Glucocerebrosidase

Answer

Arylsulfatase A

Question 20

The most prevalent mutation associated with cystic fibrosis affects the CFTR gene and is known as:

Accepted Answer

ΔF508

Answer

N1303K

Answer

W1282X

Answer

G542X

Question 21

The primary function of the urea cycle is to:

Accepted Answer

Convert ammonia to urea for excretion

Answer

Break down carbohydrates

Answer

Synthesize amino acids

Answer

Regulate blood glucose levels

Question 22

Which of the following is NOT considered a risk factor for cardiovascular disease?

Accepted Answer

Regular exercise

Answer

Diabetes

Answer

High blood pressure

Answer

High cholesterol

Question 23

Statin drugs, commonly used to treat high cholesterol, work by:

Accepted Answer

Inhibiting the enzyme HMG-CoA reductase

Answer

Activating lipoprotein lipase

Answer

Stimulating LDL receptor production in the liver

Answer

Inhibiting cholesterol absorption in the gut

Question 24

The primary cause of Alzheimer's disease is considered to be:

Accepted Answer

The accumulation of amyloid-beta plaques in the brain

Answer

Oxidative stress

Answer

Neuroinflammation

Answer

Mitochondrial dysfunction

Question 25

A deficiency in the enzyme phenylalanine hydroxylase leads to which genetic disorder?

Accepted Answer

Phenylketonuria (PKU)

Answer

Sickle cell anemia

Answer

Tyrosinemia

Answer

Albinism