Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan

Sibtain Ahmed, Fizza Akbar, Amyna Jaffar Ali, Bushra Afroze

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


Objectives: Evaluation of clinical, biochemical and molecular analysis of Pakistani patients with hepatic GSDs. Methods: Medical charts, biochemical, histopathological and molecular results of patients with hepatic GSD were reviewed. Results: Out of 55 GSD patients, 41 (74.5%) were males and 14 (25.5%) were females with consanguinity in 50 (91%) patients. The median age of initial symptoms, clinic diagnosis and molecular diagnosis were 450 (IQR: 270-960), 1,095 (IQR: 510-1,825) and 1717 (IQR: 796-3,011) days, respectively. Molecular analysis and enzyme activity was available for 33 (60%) and two patients, respectively. GSD III (n=9) was most prevalent followed by GSD Ib (n=7), GSD IXc (n=6), GSD VI (n=4), GSD Ia (n=3), GSD XI (n=3), GSD IXb (n=2) and GSD IXa (n=1). In patients (n=33) who underwent molecular analysis; 19 different variants in eight genes associated with GSD were identified. We also report five novel variants, two in SLC37A4, one in AGL and two in PYGL contributing to the diagnosis of GSD Ib, GSD III and GSD VI, respectively. Conclusions: Fifty-five patients of GSDs in 26 families from a single care provider indicate a relatively high frequency of GSD in Pakistan, with multiple unrelated families harboring identical disease-causing variants, on molecular analysis, including two known pathogenic variants in SLC37A4 and PHKG2, and a novel variant in AGL.

Original languageEnglish
Pages (from-to)373-385
Number of pages13
JournalJournal of Pediatric Endocrinology and Metabolism
Issue number3
Publication statusPublished - 1 Mar 2022


  • Pakistan
  • biochemical
  • glycogen storage diseases
  • hepatic
  • next generation sequencing


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