Related Experiment Video
Updated: Jul 19, 2026
10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
[Hearing loss in patients with Fabry disease]
A Limberger1, M Beck, S Delgado-Sanchez
1Klinik für HNO und Kommunikationsstörungen, Universitätsklinik Mainz, Mainz. limberger@kommunikation.klinik.uni-mainz.de
HNO
|September 28, 2006
Summary
Fabry disease, a genetic disorder, causes hearing loss in both males and females. While hearing impairment is common, it appears less severe in women with Fabry disease.
Area of Science:
- Genetics
- Neurology
- Otolaryngology
Context:
- Fabry disease is an X-linked lysosomal storage disorder.
- Deficient alpha-galactosidase A activity is the underlying cause.
- Known complications include pain, renal insufficiency, cardiomyopathy, and stroke.
Purpose:
- To investigate the prevalence and characteristics of hearing impairment in patients with Fabry disease.
- To compare hearing loss between genders.
- To explore the relationship between disease severity and hearing loss.
Summary:
- Hearing loss, particularly at high frequencies, is a characteristic feature of Fabry disease.
- A significant proportion of both female (22/43) and male (15/29) patients exhibited hearing loss.
- More severe Fabry disease symptoms correlated with more pronounced hearing deficits.
Impact:
- Confirms that hearing impairment affects both genders in Fabry disease.
- Suggests a potentially milder presentation of hearing loss in female patients compared to males.
- Highlights early onset of tinnitus in children with Fabry disease.
Related Concept Videos
01:22Lysosomal Hydrolases
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
01:25Ultrasound II: Endoscopic Ultrasound and FibroScan
Endoscopic Ultrasound (EUS) and FibroScan are valuable diagnostic tools in gastroenterology and hepatology, each with specific applications and techniques.
Endoscopic Ultrasound (EUS):
Endoscopic Ultrasound (EUS):
00:50Unrenewable Cells
In humans, the photoreceptor cells of the eye and sensory hair cells of the ear lack stem cells. These cells are thus unrenewable and cannot be replaced when they are damaged or destroyed.
Photoreceptors
The retina is composed of several layers and contains specialized cells called photoreceptors. The photoreceptors (rods and cones) change their membrane potential when stimulated by light energy. There are two types of photoreceptors—rods and cones—which differ in the shape of their outer...
Photoreceptors
The retina is composed of several layers and contains specialized cells called photoreceptors. The photoreceptors (rods and cones) change their membrane potential when stimulated by light energy. There are two types of photoreceptors—rods and cones—which differ in the shape of their outer...
01:23Cystic 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...
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...
01:25Assessment of the Abdomen I: Inspection and Auscultation
Introduction
The abdominal examination is a cornerstone of clinical medicine, serving as a critical tool in diagnosing various gastrointestinal (GI) diseases. It involves a systematic approach that includes inspection and auscultation, each with distinct yet complementary roles in assessing the abdomen. This article will delve into these two primary methods healthcare professionals use to examine the abdomen.
Inspection of the Abdomen
The first step in any abdominal examination is inspection.
The abdominal examination is a cornerstone of clinical medicine, serving as a critical tool in diagnosing various gastrointestinal (GI) diseases. It involves a systematic approach that includes inspection and auscultation, each with distinct yet complementary roles in assessing the abdomen. This article will delve into these two primary methods healthcare professionals use to examine the abdomen.
Inspection of the Abdomen
The first step in any abdominal examination is inspection.
01:31Hearing
When we hear a sound, our nervous system is detecting sound waves—pressure waves of mechanical energy traveling through a medium. The frequency of the wave is perceived as pitch, while the amplitude is perceived as loudness.