Fabry's disease: Difference between revisions
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{{SK}} Anderson-Fabry disease; angiokeratoma corporis diffusum universale; alpha-galactosidase A deficiency; ceramide trihexosidase deficiency; hereditary dystopic lipidosis; GLA deficiency; Sweeley-Klionsky disease | {{SK}} Anderson-Fabry disease; angiokeratoma corporis diffusum universale; alpha-galactosidase A deficiency; ceramide trihexosidase deficiency; hereditary dystopic lipidosis; GLA deficiency; Sweeley-Klionsky disease | ||
==[[Fabry's disease overview|Overview]]== | ==[[Fabry's disease overview|Overview]] == | ||
*'''Fabry's disease''' (also known as '''alpha-galactosidase A deficiency, ceramide trihexosidase deficiency, angiokeratoma corporis diffusum)''' is an [[X-linked recessive]] inherited [[Lysosomal storage disease|lysosomal storage disorder.]] | |||
*It occurs as a result of the body's inability to make an enzyme alpha-galactosidase A. This enzyme in-turn is responsible for breaking down a type of fat called [[Globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase|globotriaosylceramide]] (Gb3 or GL-3) into building blocks that are used by the cells of the body. | |||
*The abnormal accumulation of this fat typically in three main organ systems namely the brain, heart and kidney is responsible for the varied manifestations associated with the disease | |||
==[[Fabry's disease historical perspective|Historical Perspective]]== | ==[[Fabry's disease historical perspective|Historical Perspective]]== | ||
==[[Fabry's disease classification|Classification]]== | ==[[Fabry's disease classification|Classification]]== | ||
Revision as of 19:18, 16 August 2020
Template:DiseaseDisorder infobox
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Fabry's disease Microchapters |
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Fabry's disease On the Web |
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American Roentgen Ray Society Images of Fabry's disease |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2] Neepa Shah, M.B.B.S.[3]
Synonyms and keywords: Anderson-Fabry disease; angiokeratoma corporis diffusum universale; alpha-galactosidase A deficiency; ceramide trihexosidase deficiency; hereditary dystopic lipidosis; GLA deficiency; Sweeley-Klionsky disease
Overview
- Fabry's disease (also known as alpha-galactosidase A deficiency, ceramide trihexosidase deficiency, angiokeratoma corporis diffusum) is an X-linked recessive inherited lysosomal storage disorder.
- It occurs as a result of the body's inability to make an enzyme alpha-galactosidase A. This enzyme in-turn is responsible for breaking down a type of fat called globotriaosylceramide (Gb3 or GL-3) into building blocks that are used by the cells of the body.
- The abnormal accumulation of this fat typically in three main organ systems namely the brain, heart and kidney is responsible for the varied manifestations associated with the disease
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Fabry's disease from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies
Treatment
Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigation Therapies
Case Studies
External links
- Fabry Support & Information Group
- Template:NINDS
- Fabry's disease at NLM Genetics Home Reference
- Fabry's Disease Association