Which enzyme deficiency causes hereditary PK deficiency?
Understand the Problem
The question is asking which specific enzyme deficiency leads to hereditary pyruvate kinase (PK) deficiency. This involves understanding the role of different enzymes in metabolic pathways and identifying the correct one associated with PK deficiency.
Answer
Pyruvate kinase.
The enzyme deficiency that causes hereditary PK deficiency is pyruvate kinase.
Answer for screen readers
The enzyme deficiency that causes hereditary PK deficiency is pyruvate kinase.
More Information
Pyruvate kinase deficiency is an autosomal recessive disorder where the enzyme pyruvate kinase is deficient or dysfunctional, leading to premature destruction of red blood cells and causing hemolytic anemia.
Tips
Confusing pyruvate kinase deficiency with pyruvate dehydrogenase deficiency, which is a different condition, is a common mistake.
Sources
- Pyruvate kinase deficiency: MedlinePlus Medical Encyclopedia - medlineplus.gov
- Pyruvate Kinase Deficiency - Symptoms, Causes, Treatment | NORD - rarediseases.org
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