A Case Study on Pompe Disease: Presentation and Management of Early Onset Type with Perioperative Considerations | Chapter 1 | Challenges in Disease and Health Research Vol. 8

 Early onset of the disease Pomp disease is an uncommon condition that is frequently misdiagnosed. It is characterised by hypotonia, muscular weakness, and cardiopulmonary failure. The GAA enzyme is a sensitive and specific disease marker that may be measured in the blood. Early intervention with enzyme replacement therapy (ERT) reduces morbidity and improves long-term survival, but it is both costly and lifelong. On the horizon, gene therapy appears to be promising.

Author (s) Details

Raeesa Bulbulia
Garden City Clinic, Johannesburg, South Africa.

B. A. Bulbulia
Garden City Clinic, Johannesburg, South Africa.

Nazeefah Laher
Garden City Clinic, Johannesburg, South Africa.

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