Skip to main content

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.

Comments

Popular posts from this blog

Indian Martial Art - Part 4

Indian Martial Art The  literal meaning of 'martial art' is - 'art related to waging war'.  As we all know,  India is a country of traditions and cultures . Indian martial arts or martial arts are also one of the many variations of India. In ancient times, these martial arts played an important role in defeating the opposing side and establishing their supremacy over the dynasties and primitive tribes, but in the present context, if we look at these martial arts, they are  used generally in Physical health benefits, for self-defense, for religious rites and in the film world. These martial arts are mainly related to dance, yoga and performance arts. Different Branches and Sub-Branches of Science and Their Fields of Study Different Types of Indian Martial Arts Different types of martial arts are prevalent in different states and regions of India, some of which we will see in this article. We will see the details of the remaining others in the next article under differ...

Agriculture, It's Various Types And Crops

Agriculture / Farming Agriculture is that action, in which food items or other useful substances are produced and income is earned by using land through various agricultural activities and practices. For this work, along with human labor, mechanical labor is also required. As we know, India is a country full of diversities and this diversity is not only in our culture, speaking, but also from the geographical point of view, different types of topographies and systems can be seen. We will know about agriculture or farming on the basis of various sources in this article, but before that it is necessary to know about the crops in India. Ramosi And Moppila Rebellion - Farmer's Movement In British India Types of Crops We call the material produced by agriculture / farming as a crop. By the way, we can divide the crops into many categories, but on the basis of season, they are mainly of three types. Kharif Crop Rabi Crop Zaid Crop 1. Kharif Crop These are crops sown in the rainy season, ...

Major Facts Related to Lakes of India And The World

Major Facts Related to Lakes The major facts related to lakes are as follows , which can be categeorise into Lakes of the World and The lakes of the India. These are as follows -  Albinism : Genetic Mendelian Abnormality Lakes of the World Deepest lake – Lake Baikal (1750 m.) The lowest depth lake – Lake Chad of Africa (3 m.). Largest lake – Caspian Sea, followed by Lake Tanganyika. Longest lake – Lake Tanganyika (660 km), Fresh water lake. Largest fresh water lake – Lake Superior (US) | Highest navigable lake – Titicaca (located on the border of Peru and Bolivia) Highest lake – Tisso Sikru (located in the plateau of Tibet). Largest caldera lake – Tobajil (Indonesia) | Most salinity lakes – Turkey's Van Lake (330%), Jordan's Dead Sea (238%), America's Great Salt Lake (220%). Edicts and Architecture of Mauryan Lakes of India The lakes located in the deltaic regions of the river Ganges are called Bhils. The lagoon lake located on the west coast of India is called Kayal. Bemba...