A Case Study on Pompe Disease: Presentation and Management of Early Onset Type with Perioperative Considerations

Authors

  • 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.

DOI:

https://doi.org/10.9734/bpi/cdhr/v8/1987F

Keywords:

Glycogen storage disease, (GAA) enzyme deficiency, neuromuscular disorder, Infant and adult forms, multidisciplinary team management, future prospects

Abstract

Early onset Pomp disease is a rare disorder often diagnosed late. Hypotonia, muscle weakens and cardio respiratory dysfunction are its hallmark. Blood assay of the GAA enzyme is a sensitive and specific marker of the disease. Early intervention with enzyme replacement therapy (ERT) improves morbidity and long-term survival, however therapy is both costly and a lifelong requirement. Gene therapy which is on the horizon appears promising.

Published

2021-05-27

How to Cite

Raeesa Bulbulia, B. A. Bulbulia, & Nazeefah Laher. (2021). A Case Study on Pompe Disease: Presentation and Management of Early Onset Type with Perioperative Considerations. Challenges in Disease and Health Research Vol. 8, 1–7. https://doi.org/10.9734/bpi/cdhr/v8/1987F

Issue

Challenges in Disease and Health Research Vol. 8

Section

Chapters