what are examples of enzymatic disorders?
How do the diseases involve enzymatic reactions?
Examples of enzymatic disorders include:
1. Phenylketonuria (PKU): This is caused by a deficiency of the enzyme phenylalanine hydroxylase, which is responsible for converting the amino acid phenylalanine into another amino acid called tyrosine. Without this enzyme, phenylalanine levels build up in the body and can cause neurological problems.
2. Gaucher's disease: This is caused by a deficiency of an enzyme called glucocerebrosidase, which is responsible for breaking down a fatty substance called glucocerebroside. The accumulation of this substance can lead to enlargement of the liver and spleen, anemia, and bone problems.
3. Tay-Sachs disease: This is caused by a deficiency of an enzyme called hexosaminidase, which is responsible for breaking down a fatty substance called GM2 ganglioside. The buildup of this substance affects the central nervous system and leads to progressive neurological deterioration.
4. Pompe disease: This is caused by a deficiency of an enzyme called acid alpha-glucosidase (GAA), which is responsible for breaking down glycogen. The buildup of glycogen in the body affects muscle function, leading to muscle weakness and respiratory problems.
These diseases involve enzymatic reactions because they are caused by a deficiency or malfunction of specific enzymes that are crucial for normal cellular metabolism. Enzymes are proteins that catalyze specific chemical reactions in the body, including the breakdown of various molecules. When an enzyme is deficient or non-functional, the metabolic pathway it is involved in is disrupted, leading to the accumulation of specific substances that can be toxic to cells or affect normal bodily functions. This results in the characteristic symptoms and complications seen in enzymatic disorders.