What is the inheritance pattern of Pompe's disease?

Pompe’s disease is a type of glycogen storage disease caused by a deficiency of the enzyme acid alpha-glucosidase. This deficiency leads to the accumulation of glycogen in lysosomes, resulting in muscle and organ dysfunction. The inheritance pattern of Pompe's disease is characterized as autosomal recessive.

In autosomal recessive inheritance, an individual must inherit two mutated copies of the gene (one from each parent) to exhibit symptoms of the disease. Parents of an individual affected by Pompe's disease are typically carriers, meaning they possess one normal and one mutated gene but usually do not show any symptoms themselves. This pattern of inheritance is consistent with many metabolic disorders where a lack of a single functional enzyme leads to disease manifestation.

Understanding the autosomal recessive nature of Pompe’s disease emphasizes the importance of genetic counseling for families with a history of the condition, as there is a 25% chance for offspring to be affected if both parents are carriers.