An inborn error of metabolism that causes premature destruction of RBC is?

DSSSB Public Health Nurse - 2015

Biochemistry and Nutrition

Easy

Appeared in: DSSSB Public Health Nurse - 2015

Explanation

Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is the most common red blood cell enzymopathy, an inborn error of metabolism.
This deficiency makes red blood cells vulnerable to oxidative stress, leading to their premature destruction (hemolysis).
The condition is inherited as an X-linked recessive disorder, primarily affecting males.
Exposure to triggers like certain drugs (e.g., sulfonamides, antimalarials), infections, or fava beans can precipitate an acute hemolytic crisis.

Option B: Homocystinuria is an inborn error of metabolism involving the amino acid methionine, not RBC enzyme pathways. Its primary manifestations are skeletal abnormalities, lens dislocation, intellectual disability, and thromboembolism.
Option C: Finger movement is a normal physiological action controlled by the musculoskeletal and nervous systems. It is not a disease or a metabolic disorder.
Option D: Skin integrity refers to the health and intactness of the skin, which is a concept in nursing care. It is not a disease or a metabolic disorder.

Clinical Relevance

Nursing practice connection: This is primarily an exam-oriented knowledge point with limited direct bedside application, so retain Inborn errors of metabolism causing hemolytic anemia as background academic context rather than a clinical decision trigger.
A key nursing responsibility is patient education about avoiding triggers, especially fava beans and specific medications like certain antibiotics (sulfonamides) and antimalarials.
Nurses must perform thorough medication reconciliation to prevent administering drugs known to cause hemolysis in G6PD deficient patients.
During a hemolytic crisis, nurses are vital in monitoring for signs of severe anemia and kidney damage (from hemoglobinuria), managing hydration, and preparing for potential blood transfusions.

How to Approach the Question

First, analyze the question to identify the core concept: it asks for an 'inborn error of metabolism' that causes 'premature destruction of RBCs' (hemolysis).
Scan the options. Immediately eliminate options that are not diseases or metabolic disorders, such as 'Finger movement' and 'Skin integrity'. This narrows the choices down to two medical conditions.
Evaluate the remaining options, 'G6PD' and 'Homocystinuria'.
Recall or deduce the primary pathology of each. G6PD deficiency is a classic example of a red blood cell enzyme defect leading to hemolysis.
Homocystinuria is a disorder of amino acid metabolism affecting multiple systems, but its primary feature is not hemolytic anemia.
Therefore, select G6PD as the condition that directly matches the description in the question.

Concept Tested & Keywords

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