Phosphofructokinase (PFK) deficiency is a rare, inherited glycogen storage disorder (GSD) caused by a mutation in the gene encoding muscle PFK. It is also associated with reduced red cell PFK activity.
Understanding Phosphofructokinase Deficiency
Here's a breakdown of PFK deficiency:
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Definition: A genetic disorder affecting the body's ability to break down glycogen, a stored form of glucose, due to a deficiency in the phosphofructokinase enzyme.
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Inheritance: Inherited as an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.
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Genetic Basis: Caused by a mutation in the gene responsible for producing muscle PFK, located on chromosome 12.
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Impact: The mutation leads to reduced or absent PFK enzyme activity, which is crucial for glycolysis (the breakdown of glucose for energy).
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Associated Findings: The condition also results in reduced activity of red cell PFK.
