What question did this study set out to answer?

This case aims to illustrate the clinical presentation, molecular diagnosis, and management of glycogen storage disorder type IIIa in a pediatric patient.

June 11, 2026Annals of African Medicine

A Case Report of Glycogen Storage Disorder Type IIIa in a Pediatric Patient: Clinical Approach and Molecular Diagnosis

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Authors

MKMahathi Reddy Koralla VTVedant Tandon VHVishal Raghwendra Harangulkar

Discussion

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Overview

Case report shows diagnosis and management of glycogen storage disorder in a child, highlighting the need for ongoing monitoring.

Key Points

This case aims to illustrate the clinical presentation, molecular diagnosis, and management of glycogen storage disorder type IIIa in a pediatric patient.
Evaluated a 7-year-old male with abdominal distension and hepatomegaly.
Conducted imaging and liver biopsy to identify characteristic features.
Performed molecular genetic testing which revealed a pathogenic mutation in the AGL gene.
Confirmed diagnosis of GSD III through molecular testing of a homozygous mutation (c. 967C > T).
Patient experienced recurrent abdominal pain and persistent hepatomegaly despite dietary adjustments.
Emphasized the necessity for long-term surveillance due to ongoing hepatic manifestations.

Cite This Study

Koralla et al. (2026) studied this question.

synapsesocial.com/papers/6a2a51d780c8f91e7f39df5e https://doi.org/10.4103/aam.aam_159_26

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June 11, 2026Annals of African Medicine

A Case Report of Glycogen Storage Disorder Type IIIa in a Pediatric Patient: Clinical Approach and Molecular Diagnosis

View Full Paper

Ask AI

Bookmark

Authors

MKMahathi Reddy Koralla VTVedant Tandon VHVishal Raghwendra Harangulkar

Discussion

Member takes

Overview

Case report shows diagnosis and management of glycogen storage disorder in a child, highlighting the need for ongoing monitoring.

Key Points

This case aims to illustrate the clinical presentation, molecular diagnosis, and management of glycogen storage disorder type IIIa in a pediatric patient.
Evaluated a 7-year-old male with abdominal distension and hepatomegaly.
Conducted imaging and liver biopsy to identify characteristic features.
Performed molecular genetic testing which revealed a pathogenic mutation in the AGL gene.
Confirmed diagnosis of GSD III through molecular testing of a homozygous mutation (c. 967C > T).
Patient experienced recurrent abdominal pain and persistent hepatomegaly despite dietary adjustments.
Emphasized the necessity for long-term surveillance due to ongoing hepatic manifestations.

Cite This Study

Koralla et al. (2026) studied this question.

synapsesocial.com/papers/6a2a51d780c8f91e7f39df5e https://doi.org/10.4103/aam.aam_159_26

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