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Phenylketonuria : A Genic Mendelian Abnormalities

Genic Mendelian Abnormalities

Phenylketonuria is also a genetic Mendelian disorder caused by recessive genes, like sickle cell anemia. As we have read in the previous chapter, some or the other enzyme plays an important role in each and every step of metabolism in the body, if one of these enzymes is absent or gets altered due to any reason, then the metabolism gets disturbed. are seen. Considering this as the basis, 'Beadle and Tatum' presented a hypothesis called 'one gene, one enzyme'.

Phenylketonuria Or PKU

Inheritance of Sex Linked Genes

In this way, due to the change of genes in metabolism, one or the other disorder comes in the human being, or some disease or disease arises. It is a genetic disorder, which arises due to recessive genes. There are many types of it, in which sickle cell anemia, Phenylketonuria, Alkaptonuria, Albinism etc. are prominent.

Phenylketonuria Or PKU

Phenylketonuria or PKU is also a disease caused by the presence of a recessive gene. Due to the presence of a recessive gene, the enzyme required for the formation of tyrosine from phenylalanine is not produced, as a result of which the amount of phenylalanine in the blood (Phenylketonuria) increases excessively, which starts being secreted in the urine. This condition is called Phenylketonuria or PKU. This disease was first studied by Sir Archibald Garred.

General Characteristic

  • In this, the amount of phenylalanine starts increasing in the blood, which comes out through urine.
  • An increase in the amount of phenylalanine in the blood of a person suffering from this disorder shows pallor of the skin, degradation of brain tissue, defective enamel, eczema of the skin, mental weakness, etc.
  • The I.Q. of such a person Levels are usually less than 20. They are of slow mind.

Genetic Reason

Due to the presence of a recessive gene, the metabolic pathway required for the formation of tyrosine from phenylalanine is absent, which prevents the digestion of phenylalanine. As a result, the amount of Phenylalanine in the blood starts increasing.

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