Phenylketonuria (PKU) is a genetic disorder caused by a deficit in an enzyme tha
ID: 3511736 • Letter: P
Question
Phenylketonuria (PKU) is a genetic disorder caused by a deficit in an enzyme that converts the amino acid phenylalanine to tyrosine (Enz1 in the diagram below). One of the abnormalities of PKU is a buildup of phenylpyruvic acid, a product of Enz2 in the diagram below. What is the likely explanation for this buildup of phenylpyruvic acid, considering that Enz2 is completely normal? tyrosine <----Enz1--- phenylalanine ---Enz2----> phenylpyruvic acid
A. the second law of thermodynamics
B the law of independent assortment
C the first law of thermodynamics
Dthe law of use and disuse
E the law of mass action
Explanation / Answer
PHENYLKETONURIA:
This is the genetic disorder caused due to mutations in the gene which makes an enzyme called phenyl alanine hydroxylase. These enzyme is needed for the conversion of amino acid phenyl alanine into other substances.
The signs of the phenylketonuria is phenyl pyruvic acid is excreted in urine. It produces the musty or mousy odour. The other sign is the tyrosin metabolism is inhibited. Thus decreasing the melanin and causing the light skin and hair.
The law of mass action is defined as the rate of the chemical reaction proportional to the concentration of the reacting substance.
The law of use and disuse is explained as follows in every animal a more frequent and continous usage of any organ leads to the stregthening of the organ and also enlarges the organ. The power produced is proportional to the length of the time that is used. While the permanent disuse of organ normally weakens.
The law of thermodynamics is having four laws. These are the fundamental physical quantities. The temperature, energy and entropy are the three parameters that charecterizes the thermodynamic laws. These are the physical laws and were not linked in the build up of phenyl pyruvic acid.
Law of independent assortment explains that when the two or more characteristics are inherited, then the individual hereditary factors assort independently during the gamete production, giving different traits an equal opportunity of occuring together. These law is relating the build up process of the phenylpyruvic acid.