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A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
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A Classical Phenotype of Fabry Disease with Novel Mutation Found by Kidney Biopsy, A Case Report

Keiichiro Matsumoto1, Marina Ishii1, Masato Mizuta1

  • 1Department of Nephrology, Saga-ken Medical Centre Koseikan, Saga City, Saga, Japan

Iranian Journal of Kidney Diseases
|December 3, 2023
PubMed

Insights

Fabry disease (FD) is a rare genetic disorder affecting multiple organs. Early diagnosis and treatment are crucial for managing its complex symptoms and improving patient outcomes.

Area of Science:

  • Genetics and rare diseases
  • Metabolic disorders
  • Cardiovascular medicine

Background:

  • Fabry disease (FD) is a lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A.
  • This deficiency leads to the accumulation of globotriaosylceramide (Gb3) in various tissues, causing multi-organ damage.
  • FD presents with a wide spectrum of clinical manifestations, affecting the heart, kidneys, nervous system, and skin.

Keywords:
Fabry diseaseGLAagalsidase α

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