E-ISSN 1658-8088 | ISSN 1658-807X
 
2024, Vol: 7, Issue: 2
7 / 2Current Issue Online First Archive Aims and Scope Abstracting & Indexing Most Accessed Articles Most Downloaded Articles Most Cited Articles
Required files to be uploaded

Title Page

Case Report
Online Published: 19 Jan 2025
 


The Role of G6PD Deficiency in Parkinson's Disease: A Case-Based Insight

Komal Uppal, Himani Kaushik, Sunil Kumar Polipalli, Somesh Kumar, Seema Kapoor.


Abstract
Abstract
Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency, recognized as the most prevalent enzymopathy globally, limits pentose phosphate pathway (PPP), causing oxidative damage to dopaminergic nigrostriatal (DNS) neurons, has been implicated as a potential risk factor for early-onset Parkinson’s disease (EOPD).
Case presentation: This study details case of 45-year-old male presenting with EOPD. Patient presented with unsteady walk, tremors in left hand and leg, alongside gait disturbances. While biochemical assessments and MRI investigations yielded unremarkable results, Tc-99m TRODAT brain SPECT/CT imaging indicated presynaptic dopaminergic dysfunction within the bilateral basal ganglia. Treatment with Syndopa and Propranolol proved effective.
Conclusion: The combination of genetic, clinical, and imaging findings suggests a potential link between G6PD deficiency and Parkinsonism, supporting the possibility of G6PD playing a role in the development of Parkinson’s disease (PD) in this case. This report underscores the necessity for further epidemiological studies to confirm the association between G6PD deficiency and PD in adults. Further research is essential to elucidate the mechanistic pathways connecting G6PD deficiency to dopaminergic dysfunction and to explore its implications for the pathogenesis, early diagnosis, and therapeutic strategies for PD.

Key words: Case report, G6PD, Parkinson disease, Oxidative stress.


 
ARTICLE TOOLS
Abstract
PDF Fulltext
How to cite this articleHow to cite this article
Citation Tools
Related Records
 Articles by Komal Uppal
Articles by Himani Kaushik
Articles by Sunil Kumar Polipalli
Articles by Somesh Kumar
Articles by Seema Kapoor
on Google
on Google Scholar


How to Cite this Article
Pubmed Style

Uppal K, Kaushik H, Polipalli SK, Kumar S, Kapoor S. The Role of G6PD Deficiency in Parkinson's Disease: A Case-Based Insight. JBCGenetics. Online First: 19 Jan, 2025. doi:10.24911/JBCGenetics.183-1726144134

Web Style

Uppal K, Kaushik H, Polipalli SK, Kumar S, Kapoor S. The Role of G6PD Deficiency in Parkinson's Disease: A Case-Based Insight. https://www.jbcgenetics.com/?mno=220171 [Access: January 19, 2025]. doi:10.24911/JBCGenetics.183-1726144134

AMA (American Medical Association) Style

Uppal K, Kaushik H, Polipalli SK, Kumar S, Kapoor S. The Role of G6PD Deficiency in Parkinson's Disease: A Case-Based Insight. JBCGenetics. Online First: 19 Jan, 2025. doi:10.24911/JBCGenetics.183-1726144134


Vancouver/ICMJE Style

Uppal K, Kaushik H, Polipalli SK, Kumar S, Kapoor S. The Role of G6PD Deficiency in Parkinson's Disease: A Case-Based Insight. JBCGenetics, [cited January 19, 2025]; Online First: 19 Jan, 2025. doi:10.24911/JBCGenetics.183-1726144134


Harvard Style

Uppal, K., Kaushik, . H., Polipalli, . S. K., Kumar, . S. & Kapoor, . S. (2024) The Role of G6PD Deficiency in Parkinson's Disease: A Case-Based Insight. JBCGenetics, Online First: 19 Jan, 2025. doi:10.24911/JBCGenetics.183-1726144134


Turabian Style

Uppal, Komal, Himani Kaushik, Sunil Kumar Polipalli, Somesh Kumar, and Seema Kapoor. 2024. The Role of G6PD Deficiency in Parkinson's Disease: A Case-Based Insight. Journal of Biochemical and Clinical Genetics, Online First: 19 Jan, 2025. doi:10.24911/JBCGenetics.183-1726144134


Chicago Style

Uppal, Komal, Himani Kaushik, Sunil Kumar Polipalli, Somesh Kumar, and Seema Kapoor. "The Role of G6PD Deficiency in Parkinson's Disease: A Case-Based Insight." Journal of Biochemical and Clinical Genetics Online First: 19 Jan, 2025. doi:10.24911/JBCGenetics.183-1726144134


MLA (The Modern Language Association) Style

Uppal, Komal, Himani Kaushik, Sunil Kumar Polipalli, Somesh Kumar, and Seema Kapoor. "The Role of G6PD Deficiency in Parkinson's Disease: A Case-Based Insight." Journal of Biochemical and Clinical Genetics Online First: 19 Jan, 2025. Web. 19 Jan 2025 doi:10.24911/JBCGenetics.183-1726144134


APA (American Psychological Association) Style

Uppal, K., Kaushik, . H., Polipalli, . S. K., Kumar, . S. & Kapoor, . S. (2024) The Role of G6PD Deficiency in Parkinson's Disease: A Case-Based Insight. Journal of Biochemical and Clinical Genetics, Online First: 19 Jan, 2025. doi:10.24911/JBCGenetics.183-1726144134




Most Viewed Articles
Most Accessed Articles

  • Frontonasal dysplasia: a review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
    JBCGenetics. 2018; 1(2): 66-76
    » Abstract » doi: 10.24911/JBCGenetics/183-1530765389

  • The role of C-terminal tensin-like (Cten) gene in cancer metastasis
    Saleh Alghamdi, Sarah Alkwai, Mohammad Ilyas
    JBCGenetics. 2018; 1(1): 2-9
    » Abstract » doi: 10.24911/JBCGenetics/183-1531548689

  • Clinical reassessment of post-laboratory variant call format (VCF) files
    Lamia Alsubaie, Saeed Alturki, Ali Alothaim, Ahmed Alfares
    JBCGenetics. 2018; 1(1): 31-36
    » Abstract » doi: 10.24911/JBCGenetics/183-1529928114

  • Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes
    AlAnoud Al-Jarbou, Afnan Al-Turki, Suha Tashkandi, Eissa A. Faqeih
    JBCGenetics. 2018; 1(1): 37-39
    » Abstract » doi: 10.24911/JBCGenetics/183-1530040885

  • Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern
    Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
    JBCGenetics. 2018; 1(1): 40-42
    » Abstract » doi: 10.24911/JBCGenetics/183-1531469195

    •
    Most Downloaded
    Top Downloaded Articles

  • Frontonasal dysplasia: a review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
    JBCGenetics. 2018; 1(2): 66-76
    » Abstract » doi: 10.24911/JBCGenetics/183-1530765389

  • Generation of a mouse model of Primary Hyperoxaluria Type 1 via CRISPR/Cas9 mediated gene editing
    Kimberly A Coughlan, Rajanikanth J Maganti, Andrea Frassetto, Christine M DeAntonis, meredith Wolfrom, Anne-Renee Graham, Shawn M Hillier, Steven Fortucci, Hoor Al Jandal, Sue-Jean Hong, Paloma H Giangrande, Paolo GV Martini,
    JBCGenetics. 2019; 2(1): 28-39
    » Abstract » doi: 10.24911/JBCGenetics/183-1542047633

  • Syndactyly genes and classification: a mini review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas
    JBCGenetics. 2018; 1(1): 10-18
    » Abstract » doi: 10.24911/JBCGenetics/183-1532177257

  • Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern
    Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
    JBCGenetics. 2018; 1(1): 40-42
    » Abstract » doi: 10.24911/JBCGenetics/183-1531469195

  • Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia
    Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam
    JBCGenetics. 2021; 4(1): 27-34
    » Abstract » doi: 10.24911/JBCGenetics/183-1601264923

    •
    Most Cited Articles
    Most Cited Articles

  • Frontonasal dysplasia: a review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
    JBCGenetics. 2018; 1(2): 66-76
    » Abstract » doi: 10.24911/JBCGenetics/183-1530765389
    Cited : 4 times [Click to see citing articles]

  • Syndactyly genes and classification: a mini review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas
    JBCGenetics. 2018; 1(1): 10-18
    » Abstract » doi: 10.24911/JBCGenetics/183-1532177257
    Cited : 4 times [Click to see citing articles]

  • Genomics in Saudi Arabia Call for Data-Sharing Policy
    Ahmed Alfares,
    JBCGenetics. 2018; 1(2): 51-52
    » Abstract » doi: 10.24911/JBCGenetics/183-1546945268
    Cited : 4 times [Click to see citing articles]

  • Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia
    Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam
    JBCGenetics. 2021; 4(1): 27-34
    » Abstract » doi: 10.24911/JBCGenetics/183-1601264923
    Cited : 2 times [Click to see citing articles]

  • Harel-Yoon syndrome: the first case report from Saudi Arabia
    Alaa AlAyed, Manar A. Samman, Abdul Ali Peer-Zada, Mohammed Almannai
    JBCGenetics. 2020; 3(1): 22-27
    » Abstract » doi: 10.24911/JBCGenetics/183-1585816398
    Cited : 2 times [Click to see citing articles]

    •

    About Journal of Biochemical and Clinical Genetics

    The Journal of Biochemical and Clinical Genetics (JBCGenetics) is a peer-reviewed, open access medical journal. Owner:  Saudi Society of Medical ... Read more.



    For best results, please use Internet Explorer or Google Chrome.

    Contact Information

    Title Owner: Saudi Society of Medical Genetics

    https://ssmg.org.sa/en

    Society Email: info@ssmg.org.sa

    Editor in Chief: dralfadhelm@jbcgenetics.com

    Contact the publisher:

    contact@discoverpublish.com
    https://discoverpublish.com/ 

    Publisher: Discover STM Publishing Ltd, 

    82 Leslie's Arch, Old Quarter, Ballincollig, Cork, P31 RY62, Ireland.

    Hours:  M-F: 8:30am - 5:30pm

    Contact Emails:

    Journal Editorial Office:  contact@jbcgenetics.com

    Billing Support:  contact@discoverpublish.com

    Technical Support:
    anastasiia.pavlenco@sofiafields.com
    https://sofiafields.com/ 
    POLICIES & JOURNAL LINKS
    Author Login
    Reviewer Login
    About Publisher
    Advertising Policy
    Author's Rights and Obligations
    Conflict of Interest Policy
    Copyright Information
    Digital Archiving & Preservation Policies
    Editorial Policies
    Peer Review Policy
    Editorial & Peer Review Process
    License Information
    Open Access Policy
    Plagiarism Policy
    Privacy Policy
    Protection of Research Participants (Statement On Human And Animal Rights)
    Publication Ethics and Publication Malpractice Statement
    Corrections, Retractions & Expressions of Concern
    Self-Archiving Policies
    Statement of Informed Consent
    Terms of Use