Type I, which primarily affects those of Jewish descent, is the most common, the mildest, and the most variable subtype. It is also the only type without neurological involvement. Signs may become apparent as early as childhood or as late as the 5th to 6th decade of life, if ever. Signs may include enlargement of the spleen and liver, resulting in blood abnormalities such as anemia and impaired blood clotting. Accumulation of this fatty substance in the bone marrow may also cause bone weakening and fracturing.
Treatment is limited and costly.
Enzyme replacement therapy varies in individual effectiveness and is not a cure. Bone marrow transplantation can provide a lifelong cure if successful. Each of these disorders is inherited in an autosomal recessive manner. Autosomal means the abnormal gene is not on a sex chromosome. Recessive means the effect of the gene would only be seen when a baby inherits an abnormal gene from both parents.