An account of amino acid metabolism disorders in humans beings with an emphasis of the underlying molecular defects
Amino acids are monomers which join together to form a protein and are multi-functional in the human body. However, defects in amino acid metabolism occur which cause a numerous amount of disorders in humans.
One of the most common amino acid disorders is phenylketonuria (PKU). There are two types of PKU and they are known as the type 1 and the type 2. The cause of type 1PKU is the fact that the phenylalanine hydroxylase enzyme is not present or that it is defective. The cause pf PKU type 2, which hardly occurs is to do with the tetrahydrobioprotein co factor. PKU causes the accumulation of phenylalanine in all of body's fluids. This accumulation is due to the fact phenylalanine is not able to convert into the tyrosine. According to Biochemistry, 5th Edition (2002), J.M. Berg, J. L. Tymoczko and L. Stryer, Ch 23 Protein Turnover and Amino Acid Catabolism, "three......
Join Now or Login to view the rest of this paper.
Approximate Word Count: 1269
Approximate Pages: 5 (260 words per double-spaced page) |