Difference between revisions of "Fabry Disease 2011"
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Revision as of 16:34, 15 May 2011
Contents
Summary
Fabry disease is a rare genetic disease, that is inherited via the X chromosome and causes a defect in the gene GAL. It is a Lysosomal storage disease and therefor causes a wide range of symptoms. The disease is named after the German Johannes Fabry, who described the disease in 1898 simultaneous with William Anderson from UK.
Phenotype
Symptoms
As the effects caused by the enzymatic disfunction summarize over time, the symptoms evolve progressive. The symptoms occuring during childhood, are generally not specific for Fabry disease, thus it is rarely diagnosed at that stage. The most significant symptom for Fabry disease are dark red skin rashes, that usually evolve during adolescence. The most restrictive and dangerous symptoms emerge at an age of ~30-35.<ref name=fabrycom>http://www.fabrycommunity.com/en/Patients/Education/Progression.aspx</ref>
Childhood
- Pain and burning in the hands and feet
- Impaired sweating
- Psychological and social issues
- Low tolerance for exercise
- Eye abnormalities
Adolescence
- Dark red skin rashes (angiokeratomas)
- Fatigue
- Gastrointestinal problems
Adulthood
- Heart problems
- Kidney problems
- Nervous system problems
- Hearing problems
Cross-references
See also description of this disease in
α-galactosidase A
Gene
The protein α-galactosidase A is encoded by the gene GLA, which is locacted on the X chromosome (gene map locus: Xq22). The gene has an overall length of 10,222 nucleotides and consist of 7 exons (1,290 nucleotides) and 6 introns (8,932 nucleotides).
Cross-references
Protein
α-galactosidase A is a homodimeric protein that consist of 398 amino acids. It is a glycosidase (EC number: 3.2.1.22) and hydrolyses O- and S-glycosidic bonds of glycolipids.
Cross-references
- KEGG: EC 3.2.1.22
- MetaCyc: α-Galactosidase A
- PDB: 1R47
- UniProt: α-galactosidase A
- Wikipedia: α-galactosidase A
Biochemical disease mechanism
Mutations of the gene GLA influence the enzyme α-galactosidase A. These mutations can affect the synthesis, kinetic properties and stability of the enzyme which leads to an decreased enzyme activity. Hence the catabolization of glycosphingolipids is not done properly which is especially the case for the breakdown of globotriaosylceramide (GL3) to lactosylceramide (GL2) and galactose. The accumulation of the glycosphingolipids leads to the progressively arising symptoms of the Fabry disease. Since the α-galactosidase A is located in the lysosome Fabry disease is categorized as an lysosomal storage disorder.
Cross-references
Mutations
Current knowledge about mutations associated with the disease. - Separate into disease causing and neutral mutations. -- These sequence pages will be the starting point for collecting prediction results and result discussions.
Reference sequence
References
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