India recently mourned the passing of its first known Pompe disease patient, a young individual who battled with the disease until losing their life at the tender age of 24. The patient had lived in a semi-comatose state, a condition that lies between full consciousness and coma. Here’s a deeper look into this rare genetic disorder.
Understanding Semi-Comatose States
When one is in a semi-comatose state, they exhibit symptoms of partial comatose conditions without sliding into a complete coma. This condition is marked by disorientation and stupor. Patients can respond to specific stimuli by groaning and mumbling, implying that they retain some level of consciousness.
What is Pompe Disease?
Pompe disease, also referred to as Glycogen Storage Disease Type II, is defined by an abnormal accumulation of glycogen in the lysosomes of body cells. This rare genetic ailment is triggered by a deficiency in the enzyme acid alpha-glucosidase (GAA), which plays a pivotal role in breaking down glycogen into glucose within cell lysosomes.
Lysosomes are organelles enveloped by membranes and contain enzymes designed to break down biological polymers like proteins, nucleic acids, carbohydrates, and lipids. Estimates suggest the prevalence of Pompe disease ranges between 1 in 40,000 to 1 in 300,000 births.
Symptoms of Pompe Disease
Patients suffering from Pompe disease often experience muscle weakness and delayed motor skills. The disease has a degenerative influence on bones and may cause respiratory complications. Other signs include cardiac involvement and implications for daily living.
Diagnosis of Pompe Disease
To diagnose Pompe disease, medical practitioners usually conduct enzyme assays to measure the activity of the deficient GAA. They also carry out genetic testing to identify any mutations in the GAA gene responsible for this condition. The presence of specific mutations associated with Pompe disease is confirmed through genetic analysis.
Treatment Options for Pompe Disease
Though no cure has been found for Pompe disease yet, several treatments can help manage symptoms and improve the patient’s quality of life. One common method is Enzyme Replacement Therapy (ERT), which involves infusing the patient with the deficient enzyme to reduce the accumulation of glycogen.
