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Early Infantile Gangliosidosis GM1, a Rare Clinical Entity

  • Muhammad Samsoor Zarak
  • Mobin Ur Rehman Khan
  • Sana Bushra
  • Mazhar Khalid
  • Saliha Kakar
  • Helmand Khan Tareen

Asian Journal of Case Reports in Medicine and Health, Page 1-5

Published: 18 April 2018

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Abstract






Gangliosidosis is a rare lysosomal storage disease. There have been about 200 cases reported, to date. The Overall prevalence at birth of GM1 Gangliosidosis is estimated to be 1 in 100,000 to 300,000. It is an inherited enzyme deficiency of beta-galactosidase, which results in the accumulation of glycosphingolipids within the lysosomes. It leads to neurological, skeletal and dermatological manifestations. Inferred GM1 Gangliosidosis is a lysosomal storage disorder, affected by mutations in GLB1, encoding beta-galactosidase. The range of severity is from type 1 infantile disease, lethal in early childhood, to type 3 adult on set, resulting in gradually progressive neurological symptoms in adulthood. The case report relates to a 13 months old patient with early infantile type of Gangliosidosis.


 






Keywords:
  • Gangliosidosis
  • autosomal recessive inherited enzyme deficiency
  • beta-galactosidase
  • glycosphingolipids
  • lysosomes
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How to Cite

Samsoor Zarak, M., Ur Rehman Khan, M., Bushra, S., Khalid, M., Kakar, S., & Khan Tareen, H. (2018). Early Infantile Gangliosidosis GM1, a Rare Clinical Entity. Asian Journal of Case Reports in Medicine and Health, 1(1), 1-5. Retrieved from https://journalajcrmh.com/index.php/AJCRMH/article/view/24819
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