Fabry Disease 2011
Contents
Summary
Phenotype
Symptoms
As the effects caused by the enzymatic disfunction summarize over time, the symptoms evolve progressive.
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
... (see databases in "resources")
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
Biochemical disease mechanism
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.
