Al Dojan KA, Sulaiman SA, Alaarag A. Glycogen storage disease type XIV in the Middle East and North Africa region: A case report. World J Clin Pediatr 2026; 15(3): 117375 [DOI: 10.5409/wjcp.v15.i3.117375]
Corresponding Author of This Article
Samia Aziz Sulaiman, MD, School of Medicine, The University of Jordan, Queen Rania Street, Amman 11942, Jordan. samia.sulaiman2003@gmail.com
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Pediatrics
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case-report
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Al Dojan KA, Sulaiman SA, Alaarag A. Glycogen storage disease type XIV in the Middle East and North Africa region: A case report. World J Clin Pediatr 2026; 15(3): 117375 [DOI: 10.5409/wjcp.v15.i3.117375]
World J Clin Pediatr. Sep 9, 2026; 15(3): 117375 Published online Sep 9, 2026. doi: 10.5409/wjcp.v15.i3.117375
Glycogen storage disease type XIV in the Middle East and North Africa region: A case report
Khalid Adel Al Dojan, Samia Aziz Sulaiman, Abdallah Alaarag
Khalid Adel Al Dojan, Department of General Pediatrics, Maternity and Children’s Hospital at Al Bashir Hospital, Ministry of Health, Basheer Hospitals, Amman 11183, Jordan
Samia Aziz Sulaiman, School of Medicine, The University of Jordan, Amman 11942, Jordan
Abdallah Alaarag, HCA Florida Healthcare/University of South Florida Morsani College of Medicine, Citrus Hospital, Inverness, FL 34452, United States
Author contributions: Al Dojan KA, Sulaiman SA, and Alaarag A conceptualized the study, drafted the initial manuscript, and reviewed and revised the manuscript; Al Dojan KA and Sulaiman SA collected data; Al Dojan KA designed the study.
Informed consent statement: Written informed consent was obtained from the patient’s guardians for publication of this case report, including accompanying clinical and radiologic images.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Corresponding author: Samia Aziz Sulaiman, MD, School of Medicine, The University of Jordan, Queen Rania Street, Amman 11942, Jordan. samia.sulaiman2003@gmail.com
Received: December 10, 2025 Revised: January 17, 2026 Accepted: March 10, 2026 Published online: September 9, 2026 Processing time: 238 Days and 9.9 Hours
Abstract
BACKGROUND
This case report expands the limited literature on phosphoglucomutase-1 deficiency (GSD XIV), a rare disorder that combines features of glycogen storage disease and congenital disorders of glycosylation. Given its wide clinical spectrum and often subtle early signs, under-recognition remains common. We report this case to highlight its multisystem involvement, emphasize diagnostic challenges, and reinforce the need for early consideration of GSD XIV in patients with unexplained hepatic, metabolic, and neuromuscular abnormalities.
CASE SUMMARY
We describe a case of a three-year-old girl born to consanguineous parents who presented with a constellation of atypical features, including cleft palate with bifid uvula, transient ventricular septal defect, hepatomegaly, persistent transaminitis, recurrent ketotic hypoglycemia, coagulopathy, febrile seizures, and emerging proximal muscle weakness. Despite an extensive workup, including metabolic, infectious, and immunologic testing, no clear diagnosis was identified in early infancy. Whole-exome sequencing revealed a homozygous pathogenic variant in PGM1 (c.1294G>T), confirming the diagnosis of GSD XIV.
CONCLUSION
This case highlights that genetic analysis is highly useful for diagnosing and specifying the subtype of GSD in patients with suspected multiorgan involvement, particularly those presenting with persistent transaminitis and neurological abnormalities.
Core Tip: Phosphoglucomutase-1 deficiency is a rare, under-recognized disorder with a broad and often subtle multisystem presentation. The condition was first recognized in 1963 through paternity testing and later classified as glycogen storage disease type XIV after reports of glycogen accumulation, severe enzyme deficiency, and rhabdomyolysis. This case underscores the importance of considering phosphoglucomutase-1 deficiency in children with unexplained hepatic dysfunction, hypoglycemia, neuromuscular symptoms, and congenital anomalies, and highlights the diagnostic value of early genomic testing.
