In some cases, the symptoms can be reversed by enzyme replacement therapy. Gaucher disease can be diagnosed prenatally. Known also as G6PD deficiency. A very common pharmacogenetic disorder that causes anemia in response to certain foods and drugs. The gene is on the X chromosome.
Affected persons have a gray or bronze skin color due to accumulation of iron pigments.
The resulting iron overload causes cirrhosis of the liver, diabetes, heart disease, bone demineralization and other metabolic disorders. Generally males with this condition are tall and have very small testicles. They are sterile. Copyright 2000, Genetics Now. See Copyright, Trademark, Disclaimer, Etc. Notice .