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A deficiency in insulin causes type I diabetes mellitus.
Deletion Mutation causes DiGeorges Syndrome.
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caused by a deficiency in the enzyme N-acetylglucosamine-6-sulfatase, due to mutations in the GNS gene located on chromosome 12. This form of MPS III is also rare.
Adenosine deaminase deficiency (ADA). About 50% of SCID cases are of this type.
caused by a deficiency of the enzyme heparan sulfate sulfamidase, due to mutations in the SGSH gene on chromosome 17. Type IIIA is felt to be the most severe of the four types, in which symptoms appear and death occurs at an earlier age
HIV is the Acronym for Human Immunodeficiency Virus. It is caused by a Virus.
It is a virus: HIV (Human Immunodeficiency Virus).
Laboratory tests are performed to verify the diagnosis. Antibodies can be found in the blood. Blood is collected and analyzed for the content and types of antibodies present. Depending on the type of immunoglobulin deficiency the laboratory tests.
The genetic defect causes a deficiency of the enzyme glucocerebrosidase that is responsible for breaking down a certain type of fat and releasing it from fat cells.
Each type of MPS is caused by a deficiency of one of the enzymes involved in breaking down GAGs.
Type Ia, or von Gierke's disease, is caused by glucose-6-phosphatase deficiency in the liver, kidney, and small intestine.