This increases the risk of coronary artery disease. After Down syndrome, the most common cause of mental retardation, accounting for a quarter of all cases in males. Affected males have large testicles, large chin and ears, increased head size and characteristic facial appearance. A third of carrier females are mildly retarded. Mutation of autosomal recessive genes causes abnormal accumulation of glucosylceramide, a glycolipid involved in normal metabolism.
Survival is prolonged.
Persons with Type III Gaucher disease die by age 10-15 after exhibiting motor difficulties, seizures, progressive dementia and enlargement of the liver and spleen. 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.