Fabry Disease 2011

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Revision as of 16:01, 15 May 2011 by Drexler (talk | contribs) (α-galactosidase A)

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

The location of the gene GLA on the X chromosome.

Gene

Cross-references

Protein

Cross-references

Biochemical disease mechanism

Glycosphingolipid biosynthesis of Homo sapiens. The disease associated enzyme is highlighted in red.
The hydrolysation of globotriaosylceramide (GL3) to lactosylceramide (GL2) and galactose is catalyzed by the protein α-galactosidase A.

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