What is an Acid Maltase Deficiency?

April 21 22:50 2019 Print This Article

It is defined as a condition in which there occurs a problem in the storage of glycogen. It is also known as the Pompe disease. It is a neuro muscular disorder which is autosomal recessive in the nature. It is a metabolic disorder which occurs in the people suffering from lysosomal storage diseases. It is caused due to the deficiency in the acid alpha glucosidase enzyme. It helps in the breakdown of glycogen which is a long branched glucose polymer. It is changed into the sugar and stored which provides the energy.

This is the only storage disease of glycogen which has a defect in the lysosomal metabolism. It was the first glycogen storage disease to be known in the year 1932. It was the Johann Pompe who first identified it and the disease was named after it. The prevalence of the disease is 1 in 35000 births. The defected gene is present on the auto some. It means that two copies of the gene one from each parent is required to born with this disorder. The children have 25 percent of chance of inheriting this disorder. This is autosomal recessive disorder. Both of the parents carry the defective gene. The parents are not affected by this disorder.

What are the signs and symptoms of Acid maltase deficiency?

It leads to the weakness of muscles which is known as the myopathy. It occurs throughout the body and affects the multiple tissues which include the heart, muscles, liver and nervous system.

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