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Case Report

Online Publishing Date:
03 / 04 / 2020

 


Glycogen Storage Disease Type IV: A Case Report

Abdelhakim Elyajouri, Mohamed Sellouti, Abdelhakim Ourrai, Amale Hassani, Rachid Abilkassem, Aomar Agadr.


Abstract
Glycogen storage disease (GSD) IV is a rare autosomal recessive inherited disorder caused by mutations in the gene coding for glycogen branching enzyme(GBE). The clinical spectrum is wide ranging from isolated non-progressive hepathopathy, neuromuscular disorders with variable age of onset, to the adult polyglucosan body disease. We report a five month old female patient with GSD who presented with conjunctival jaundice and hepatomegaly. A liver biopsy showed the presence of material with histochemical and ultrastructural characteristics consistent with amylopectin. Measurement of glycogen quantity in the red blood cells showed increasead storage of glycogen. Biochemical analysis demonstrated severely reduced branching enzyme activity

Key words: Glycogen storage disease, glycogen branching enzyme, liver transplantation


 
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How to Cite this Article
Pubmed Style

Elyajouri A, Sellouti M, Ourrai A, Hassani A, Abilkassem R, Agadr A. Glycogen Storage Disease Type IV: A Case Report. Int J Med Rev Case Rep. 2020; 4(5): 88-90. doi:10.5455/IJMRCR.Glycogen-Storage-Disease-Type-IV

Web Style

Elyajouri A, Sellouti M, Ourrai A, Hassani A, Abilkassem R, Agadr A. Glycogen Storage Disease Type IV: A Case Report. https://www.mdpub.net/?mno=89669 [Access: April 04, 2024]. doi:10.5455/IJMRCR.Glycogen-Storage-Disease-Type-IV

AMA (American Medical Association) Style

Elyajouri A, Sellouti M, Ourrai A, Hassani A, Abilkassem R, Agadr A. Glycogen Storage Disease Type IV: A Case Report. Int J Med Rev Case Rep. 2020; 4(5): 88-90. doi:10.5455/IJMRCR.Glycogen-Storage-Disease-Type-IV


Vancouver/ICMJE Style

Elyajouri A, Sellouti M, Ourrai A, Hassani A, Abilkassem R, Agadr A. Glycogen Storage Disease Type IV: A Case Report. Int J Med Rev Case Rep. (2020), [cited April 04, 2024]; 4(5): 88-90. doi:10.5455/IJMRCR.Glycogen-Storage-Disease-Type-IV


Harvard Style

Elyajouri, A., Sellouti, . M., Ourrai, . A., Hassani, . A., Abilkassem, . R. & Agadr, . A. (2020) Glycogen Storage Disease Type IV: A Case Report. Int J Med Rev Case Rep, 4 (5), 88-90. doi:10.5455/IJMRCR.Glycogen-Storage-Disease-Type-IV


Turabian Style

Elyajouri, Abdelhakim, Mohamed Sellouti, Abdelhakim Ourrai, Amale Hassani, Rachid Abilkassem, and Aomar Agadr. 2020. Glycogen Storage Disease Type IV: A Case Report. International Journal of Medical Reviews and Case Reports, 4 (5), 88-90. doi:10.5455/IJMRCR.Glycogen-Storage-Disease-Type-IV


Chicago Style

Elyajouri, Abdelhakim, Mohamed Sellouti, Abdelhakim Ourrai, Amale Hassani, Rachid Abilkassem, and Aomar Agadr. "Glycogen Storage Disease Type IV: A Case Report." International Journal of Medical Reviews and Case Reports 4 (2020), 88-90. doi:10.5455/IJMRCR.Glycogen-Storage-Disease-Type-IV


MLA (The Modern Language Association) Style

Elyajouri, Abdelhakim, Mohamed Sellouti, Abdelhakim Ourrai, Amale Hassani, Rachid Abilkassem, and Aomar Agadr. "Glycogen Storage Disease Type IV: A Case Report." International Journal of Medical Reviews and Case Reports 4.5 (2020), 88-90. Print. doi:10.5455/IJMRCR.Glycogen-Storage-Disease-Type-IV


APA (American Psychological Association) Style

Elyajouri, A., Sellouti, . M., Ourrai, . A., Hassani, . A., Abilkassem, . R. & Agadr, . A. (2020) Glycogen Storage Disease Type IV: A Case Report. International Journal of Medical Reviews and Case Reports, 4 (5), 88-90. doi:10.5455/IJMRCR.Glycogen-Storage-Disease-Type-IV


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