What Are The Signs And Symptoms Of Acid Maltase Deficiency?


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Sudipa Sarkar answered
Acid Maltase Deficiency, first described by the Dutch pathologist J. C. Pompe in 1932, refers to the genetically inherited condition in which glycogen is built up in the muscles causing progressive degeneration of muscle tissues. The condition is also known as Pompe disease. This disorder can be sub-categorised into three types depending on its onset of the symptoms in association with the age of the victim suffering from the disorder. The types are as follows:

• Type a – infantile
• Type b – children
• Type c – adult

The primary symptom associated with 'Type a', that is infantile acid maltase deficiency, is 'floppy baby syndrome'. The symptoms associated with this condition are as follows –

• Extreme weakness in muscular area
• Lack of muscle tone, especially in the skeletal muscles
• Cardiomyopathy – overall weakness in the heart muscles
• Weakened respiratory muscles
• Cardiomegaly – heart enlargement
• Abnormal accumulation of glycogen in most of the tissues

The symptoms associated with 'Type b' or childhood acid maltase deficiency are as follows:

• Weakened muscle tone due to formation of glycogen in muscle tissues
• Progressive weakness in skeletal and respiratory muscles
• Glycogen accumulation

The symptoms associated with 'Type c' or adult acid maltase deficiency are as follows:

• Fatigue
• Weakness in the muscle of the trunk
• High blood pressure in the artery, condition known as pulmonary hypertension
• Glycogen accumulation

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