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Related Experiment Video

Updated: May 24, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

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Published on: December 20, 2017

Acid maltase deficiency--Pompe's disease.

Sajjad Jamil¹, Shahid Ahmed, Muhammad Tariq

¹Department of Medicine, Aga Khan University Hospital, Karachi.

JPMA. the Journal of the Pakistan Medical Association

|February 24, 2012

Summary

This case study details a rare diagnosis of Pompe disease, a type of glycogen storage disease, in a young Pakistani boy presenting with muscle weakness. This finding highlights the importance of recognizing GSDs in pediatric patients.

Area of Science:

Biochemistry
Genetics
Pediatrics

Background:

Inborn errors of metabolism arise from genetic mutations affecting glycogen synthesis, degradation, or regulation.
Glycogen storage diseases (GSDs) are a group of inherited metabolic disorders characterized by abnormal glycogen accumulation.
Acid maltase deficiency, or Pompe disease, is a rare GSD affecting muscle tissue.

Observation:

A young boy presented with generalized weakness and reduced muscle bulk from childhood.
Diagnostic evaluation led to the identification of acid maltase deficiency (Pompe disease).

Findings:

The case represents a rare instance of Pompe disease, a glycogen storage disorder.
This case study includes a review of relevant literature on acid maltase deficiency.

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This may be the first reported case of Pompe disease in Pakistan.

Implications:

This case underscores the need for increased awareness and diagnosis of rare GSDs, including Pompe disease, in pediatric populations.
Early diagnosis and management of Pompe disease are crucial for improving patient outcomes.
Reporting this case contributes to the understanding of GSD prevalence in Pakistan and globally.