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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

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Published on: December 20, 2017

Fabry's disease.

Tatiana Adam1, Luana Alexandrescu, F Voinea

  • 11st Internal Medicine Department, The Emergency County Hospital Constanţa, Romania. tatianaadam04@yahoo.com

Romanian Journal of Internal Medicine = Revue Roumaine De Medecine Interne
|April 5, 2008
PubMed
Summary
This summary is machine-generated.

Fabry disease, a rare genetic disorder, results from deficient alpha-galactosidase A activity, leading to lipid accumulation. This case highlights the complex, multi-systemic manifestations in a heterozygous patient.

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Area of Science:

  • Genetics
  • Metabolic Disorders
  • Rare Diseases

Background:

  • Fabry disease is an X-linked recessive glycolipid storage disorder.
  • It stems from deficient alpha-galactosidase A enzyme activity.
  • This deficiency impairs lipid catabolism, causing substrate accumulation.

Observation:

  • The study presents a 43-year-old patient with Fabry disease.
  • The patient exhibits cardiac, neurological, digestive, renal, and cutaneous involvement.
  • Heterozygous Fabry disease manifestations are less commonly documented.

Findings:

  • Accumulation of globotriaosylceramide (GL-3) and other glycosphingolipids occurs in vascular endothelium and tissues.
  • Progressive lipid accumulation leads to severe renal, cardiac, and cerebrovascular complications.
  • The patient's diverse symptoms underscore the systemic nature of the disease.

Implications:

  • This case emphasizes the importance of recognizing varied clinical presentations of Fabry disease, particularly in heterozygous individuals.
  • Early diagnosis and management are crucial for mitigating life-threatening sequelae.
  • Further research into heterozygous Fabry disease is warranted to understand its full spectrum.