What is Gauches Disease?
Gaucher disease is a point mutation and is autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded. Normally, the body makes an enzyme called glucocerebrosidase that breaks down and recycles glucocerebroside - a normal part of the cell membrane.
How Is It Inherited?
Gaucher disease is inherited in families in an autosomal recessive manner. Normally, a person has two copies of the genes that provide instructions for making the enzyme,glucocerbrosidase. For most individuals, both genes work properly. When one of the two genes is not functioning properly, the person is a carrier. Gauchers disease is recessive which means that it can skip a generation but also means that some can be a carrier. Gaucheries disease affects the first pair chromosomes in the set of three.
Gaucher disease is a point mutation and is autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded. Normally, the body makes an enzyme called glucocerebrosidase that breaks down and recycles glucocerebroside - a normal part of the cell membrane.
How Is It Inherited?
Gaucher disease is inherited in families in an autosomal recessive manner. Normally, a person has two copies of the genes that provide instructions for making the enzyme,glucocerbrosidase. For most individuals, both genes work properly. When one of the two genes is not functioning properly, the person is a carrier. Gauchers disease is recessive which means that it can skip a generation but also means that some can be a carrier. Gaucheries disease affects the first pair chromosomes in the set of three.