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Related Concept Videos

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Pedigree Analysis01:35

Pedigree Analysis

Overview
Amyloid Fibrils03:03

Amyloid Fibrils

Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining, normally used to...
Amyloid Fibrils03:03

Amyloid Fibrils

Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining, normally used to...

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Related Experiment Video

Updated: Jun 21, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Fabry disease-often seen, rarely diagnosed.

Björn Hoffmann1, Ertan Mayatepek

  • 1Klinik für Allgemeine Pädiatrie, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität, Düsseldorf, Germany. hoffmann@med.uni-duesseldorf.de

Deutsches Arzteblatt International
|July 23, 2009
PubMed
Summary

Fabry disease is underdiagnosed in Germany, with diagnosis delays exceeding a decade. Enzyme replacement therapy shows promise for improving symptoms and preventing severe complications.

Keywords:
Fabry diseasediagnosisenzyme substitutionlysosomal storage diseasemolecular medicine

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

Published on: December 20, 2017

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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

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Published on: March 23, 2022

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

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

Published on: December 20, 2017

Area of Science:

  • Medical Genetics
  • Rare Diseases
  • Metabolic Disorders

Background:

  • Fabry disease is more prevalent in Germany than previously thought.
  • Diverse clinical manifestations complicate differential diagnosis, leading to diagnostic delays.
  • Underdiagnosis is a significant issue, impacting patient outcomes.

Purpose of the Study:

  • To review clinical manifestations, diagnostic approaches, and treatment options for Fabry disease.
  • To highlight the prevalence and diagnostic challenges of Fabry disease in Germany.
  • To assess the potential of enzyme replacement therapy.

Main Methods:

  • Comprehensive literature review focusing on large patient cohorts.
  • Analysis of clinical manifestations, diagnostic criteria, and treatment efficacy.
  • Evaluation of ongoing therapeutic trials.

Main Results:

  • Fabry disease is significantly underdiagnosed in Germany compared to international prevalence.
  • Typical symptoms include angiokeratoma, acroparesthesia, cardiomyopathy, and corneal opacities, alongside nonspecific complaints.
  • Women exhibit the full spectrum of clinical manifestations; hearing impairment and tinnitus are recognized features.

Conclusions:

  • Fabry disease remains underdiagnosed, with average diagnostic delays over ten years.
  • Enzyme replacement therapy using human alpha-galactosidase A offers potential for symptom improvement.
  • Early diagnosis and treatment are crucial to mitigate life-threatening sequelae like renal failure and cerebrovascular events.