Individual Treatment Trial of PIGV-Associated Mabry Syndrome with D-Mannose in a Young Child
Published on: 27th December, 2023
We describe the first individual treatment trial with D-mannose in a young girl with PIGV-CDG. PIGV-CDG belongs to the GPI anchor deficiencies leading to intellectual disability, dysmorphic features, epilepsy, and, less frequently, organ malformations. A hallmark of the GPI anchor deficiencies is the elevated serum alkaline phosphatase (AP). Our patient carried the germline homozygous PIGV variant c.1022C>A, p. (Ala341Glu), the most commonly reported pathogenic variant leading to PIGV-CDG so far. We aimed to improve the impaired enzymatic function of PIGV through elevated substrate levels by giving D-mannose orally. We monitored the clinical status, developmental progress as well as serum AP levels. Our patient experienced no side effects. Standardized developmental testing showed better developmental progress during the 21-month treatment period with D-mannose than in the 12 months following the discontinuation of treatment. The D-Mannose treatment might have had a positive effect on the development of our patient with PIGV-CDG.
Blog Section
Search by University/Institution
Enter your University/Institution to find colleagues at HSPI.
Ensuring author's satisfaction with
- Friendly and hassle-free publication process
- Less production time of articles
- Constructive peer-review
- Enhancing journal reputation
- Regular feedback system
- Quick response to authors' queries
Most Viewed Keywords
Search Articles by Country
Get all latest articles in all Heighten Science Publications Inc journals by country.
Testimonials
Your journal co-operation is very appreciable and motivational. I am really thankful to your journal and team members for the motivation and collaboration to publish my work.
Assistant Professor, UCLAS Uttaranchal University,...
Archna Dhasmana
Congratulations for the excellence of your journal and high quality of its publications.
Angel MARTIN CASTELLANOS
We appreciate your approach to scholars and will encourage you to collaborate with your organization, which includes interesting and different medical journals. With the best wishes of success, creat...
Ivano- Frankivsk National Medical University, Ukra...
Nataliya Kitsera
I am to express my view that Heighten Science Publications are reliable quick even after peer review process. I hope and wish the publications will go a long way in disseminating science to many inter...
College of Fisheries, CAU(I), Tripura, India
Ajit Kumar Roy
Journal of Pulmonary and Respiratory Research is good journal for respiratory research purposes. It takes 2-3 weeks maximum for review of the manuscript to get published and any corrections to be made...
Divya Khanduja
I wanna to thank Clinical Journal of Nursing Care and Practice for its effort to review and publish my manuscript. This is reputable journal. Thank you!
Atsedemariam Andualem
“The choice to submit the forensic case study to the Journal of Addiction Therapy and Research was dictated by the match between the content and the potential readership. The publication process pro...
Elisabeth H Wiig
Your services are very good
Chukwuka Ireju Onyinye
"An amazing experience with the Journal of Advanced Pediatrics and Child Health. Very fast blind review with pertinent corrections and suggestions. I highly recommand both the journal and the editor."
Chaimae Khairoun
"This is my first time publishing with the journal/publisher. I am impressed at the promptness of the publishing staff and the professionalism displayed. Thank you for encouraging young researchers li...
Ekiti State University, Nigeria