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Related Experiment Video

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

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Published on: December 20, 2017

Different phenotypic expression in relatives with fabry disease caused by a W226X mutation.

I E Knol¹, M G Ausems, D Lindhout

¹Clinical Genetics Center Utrecht, The Netherlands. knol@pobox.accu.uu.nl

American Journal of Medical Genetics

|March 9, 1999

Summary

This summary is machine-generated.

Fabry disease, an X-linked metabolic disorder, shows varied symptoms even in relatives with the same mutation. This highlights challenges in predicting Fabry disease phenotypes and underscores the need for early diagnosis.

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Area of Science:

Biochemistry
Genetics
Metabolic Disorders

Background:

Fabry disease is an X-linked genetic disorder caused by deficient alpha-galactosidase A (alpha-Gal A) enzyme activity.
This deficiency leads to the accumulation of glycosphingolipids, impacting cellular metabolism.
The alpha-Gal A gene is located on the X chromosome at position q22.1.

Observation:

Two male relatives with Fabry disease exhibited significantly different clinical presentations and ages of onset.
One individual presented with growth retardation and skeletal dysplasia.
The other affected relative primarily experienced acroparesthesia and celiac disease.

Findings:

The study highlights the significant phenotypic variability in Fabry disease, even among individuals with the same alpha-Gal A mutation.
Establishing precise genotype-phenotype correlations in Fabry disease is challenging due to the prevalence of private mutations.
This family's presentation underscores the difficulty in predicting clinical outcomes based solely on genetic information.

Implications:

The findings emphasize the complexity of Fabry disease and the limitations in predicting disease severity and symptoms.
Accurate diagnosis can be challenging, especially in the absence of a clear family history.
Early and comprehensive diagnostic approaches are crucial for effective management of Fabry disease.