Year 2019, Volume 6, Issue 6, Pages 103 - 108 2019-06-30

McArdle's disease in a Turkish woman due to an intronic variant of PYGM gene

Gülden Diniz [1] , Canan Çelik [2] , Oğuz Dikbaş [3] , Aslıhan Duman [4] , Ayşe Feyda Nursal [5]

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Objective: Glycogen storage disease type 5, also known as McArdle disease, is a hereditary disorder with progressive myopathy. It is characterized by onset of exercise intolerance with premature fatigue and painful muscle cramps in childhood or adolescence. Temporary myoglobinuria may occur after exercise due to rhabdomyolysis. Patients may have mild muscle weakness since childhood. Muscular atrophy with fatty replacement may develop in adult life. McArdle disease is a relatively benign disease and rarely severe myoglobinuria can cause acute renal failure as a complication of widespread rhabdomyolysis. This autosomal recessive disease is caused a homozygous mutation of the PYGM gene encoding muscle enzyme myophosphorylase C. 

Case: A 36-year-old woman admitted to the Physical Medicine and Rehabilitation polyclinic of Giresun University Hospital with a complaint of gradually increasing progressive weakness and tiredness since 13 years age. CK serum level has been found to in normal range; even after exercise. The findings demonstrated myogenic abnormalities on electromyography, multiple glycogen-containing vacuoles and undetectable muscle myophosphorylase activity on muscle biopsy. The genetic analysis revealed no pathogenic mutations in exon regions of PYGM gene. But in sequencing analysis, the rs71049658, insertion/ deletion variation in intron 17 was determined. Coenzyme Q10 (CoQ-10) 30mg/day, vitamin B6 250mg/day and L-carnitine 1gr/day treatment protocol has been applied and after two months the treatment, clinical improvement has been achieved. 

Conclusion: In this case report, an atypical McArdle case with a diagnostic challenge has been presented. We thought that this polymorphism in the myophosphorylase gene may lead to a severe mosaic alteration in mRNA splicing, including exon skipping, activation of cryptic splice-sites, and exon-intron reorganizations.

Mc Ardle Disease, Myopathy, Myophosphorylase
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Primary Language en
Subjects Health Care Sciences and Services
Journal Section Case Reports
Authors

Orcid: 0000-0003-1512-7584
Author: Gülden Diniz (Primary Author)
Institution: Izmir Democracy University, Dept of pathology, İzmir
Country: Turkey


Author: Canan Çelik
Institution: Giresun University, Dept of Physical Medicine and Rehabilitation, Giresun
Country: Turkey


Author: Oğuz Dikbaş
Institution: Giresun University, Dept of Internal Medicine, Giresun
Country: Turkey


Author: Aslıhan Duman
Institution: Giresun University, Dept of Pathology, Giresun
Country: Turkey


Author: Ayşe Feyda Nursal
Institution: Giresun University, Dept of Genetics, Giresun
Country: Turkey


Supporting Institution yok
Project Number yok
Thanks We gratefully thank to firm “DONE Genetics and Bioinformatic” for their support in genetic analysis of this case
Dates

Publication Date: June 30, 2019

Bibtex @case report { msd565927, journal = {Medical Science and Discovery}, issn = {2148-6832}, eissn = {2148-6832}, address = {Zafer AKAN}, year = {2019}, volume = {6}, pages = {103 - 108}, doi = {10.17546/msd.565927}, title = {McArdle's disease in a Turkish woman due to an intronic variant of PYGM gene}, key = {cite}, author = {Diniz, Gülden and Çelik, Canan and Dikbaş, Oğuz and Duman, Aslıhan and Nursal, Ayşe Feyda} }
APA Diniz, G , Çelik, C , Dikbaş, O , Duman, A , Nursal, A . (2019). McArdle's disease in a Turkish woman due to an intronic variant of PYGM gene. Medical Science and Discovery, 6 (6), 103-108. DOI: 10.17546/msd.565927
MLA Diniz, G , Çelik, C , Dikbaş, O , Duman, A , Nursal, A . "McArdle's disease in a Turkish woman due to an intronic variant of PYGM gene". Medical Science and Discovery 6 (2019): 103-108 <http://dergipark.org.tr/msd/issue/45522/565927>
Chicago Diniz, G , Çelik, C , Dikbaş, O , Duman, A , Nursal, A . "McArdle's disease in a Turkish woman due to an intronic variant of PYGM gene". Medical Science and Discovery 6 (2019): 103-108
RIS TY - JOUR T1 - McArdle's disease in a Turkish woman due to an intronic variant of PYGM gene AU - Gülden Diniz , Canan Çelik , Oğuz Dikbaş , Aslıhan Duman , Ayşe Feyda Nursal Y1 - 2019 PY - 2019 N1 - doi: 10.17546/msd.565927 DO - 10.17546/msd.565927 T2 - Medical Science and Discovery JF - Journal JO - JOR SP - 103 EP - 108 VL - 6 IS - 6 SN - 2148-6832-2148-6832 M3 - doi: 10.17546/msd.565927 UR - https://doi.org/10.17546/msd.565927 Y2 - 2019 ER -
EndNote %0 Medical Science and Discovery McArdle's disease in a Turkish woman due to an intronic variant of PYGM gene %A Gülden Diniz , Canan Çelik , Oğuz Dikbaş , Aslıhan Duman , Ayşe Feyda Nursal %T McArdle's disease in a Turkish woman due to an intronic variant of PYGM gene %D 2019 %J Medical Science and Discovery %P 2148-6832-2148-6832 %V 6 %N 6 %R doi: 10.17546/msd.565927 %U 10.17546/msd.565927
ISNAD Diniz, Gülden , Çelik, Canan , Dikbaş, Oğuz , Duman, Aslıhan , Nursal, Ayşe Feyda . "McArdle's disease in a Turkish woman due to an intronic variant of PYGM gene". Medical Science and Discovery 6 / 6 (June 2019): 103-108. https://doi.org/10.17546/msd.565927
AMA Diniz G , Çelik C , Dikbaş O , Duman A , Nursal A . McArdle's disease in a Turkish woman due to an intronic variant of PYGM gene. Med Sci Discov. 2019; 6(6): 103-108.
Vancouver Diniz G , Çelik C , Dikbaş O , Duman A , Nursal A . McArdle's disease in a Turkish woman due to an intronic variant of PYGM gene. Medical Science and Discovery. 2019; 6(6): 108-103.