asteinert

Type 1 Gaucher Disease is an autosomal recessive lysosomal storage disease, as both copies of the gene must be defective. Carriers have one normal and one defective gene. It is caused by missing the enzyme β-glucocerebrosidase that breaks down a glycolipid called glucocerebroside, which accumulates in the body. Symptoms can come up at any age … Read more

Type 1 Gaucher Disease is an autosomal recessive lysosomal storage disease, as both copies of the gene must be defective. Carriers have one normal and one defective gene. It is caused by missing the enzyme β-glucocerebrosidase that breaks down a glycolipid called glucocerebroside, which accumulates in the body. Symptoms can come up at any age … Read more