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Related Experiment Video

Updated: Jun 1, 2026

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

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

Published on: December 20, 2017

[Pompe and his disease].

Jan van Gijn¹, Joost P Gijselhart

¹Nederlands Tijdschrift voor Geneeskunde, Amsterdam, the Netherlands. jan@vangijn.com

Nederlands Tijdschrift Voor Geneeskunde

|June 9, 2011

Summary

This summary is machine-generated.

Johannes Pompe described a fatal glycogen storage disease in infants. This condition, now known as Pompe disease (glycogen storage disease type II), results from a specific enzyme deficiency and is treatable with enzyme replacement therapy.

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Area of Science:

Biochemistry
Genetics
Pediatrics

Background:

Johannes Cassianus Pompe's 1932 report detailed a fatal case of extreme cardiac hypertrophy in a 7-month-old girl.
Microscopic examination revealed widespread glycogen accumulation in the heart, liver, kidneys, and skeletal muscles.

Discussion:

The condition described by Pompe is now classified as Pompe disease, or glycogen storage disease type II.
It is caused by a deficiency of the lysosomal enzyme alpha-glucosidase.
Partial enzyme deficiency leads to later onset and muscle weakness.

Key Insights:

Pompe disease involves systemic glycogen accumulation due to alpha-glucosidase deficiency.
Early diagnosis and intervention are crucial for managing the disease.
The historical account by Pompe laid the groundwork for understanding this rare genetic disorder.

Outlook:

Enzyme replacement therapy is now a feasible treatment option for Pompe disease.
Further research may focus on improving therapeutic efficacy and expanding treatment accessibility.
Understanding the genetic basis allows for potential carrier screening and genetic counseling.