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Q. What is Galactosemia?
Galactosemia is a genetic disorder caused by deficient functioning of any of these three enzymes namely galactokinase, galactose -1 - phosphate uridyl transferase, or UDP galactose - 4- epimerase. Galactose derived from the hydrolysis of lactose in the intestine is absorbed normally. Bur in the absence of gal-1-P-transferase it leads to the accumulation of galactose, galactose-1-phosphate, and galactitol in the blood and tissues. Accumulation of gal-1-P reduces the intracellular phosphate for high energy phosphate bonds. Thus ATP, GTP and CTP are reduced.
Patients with galactokinase deficiency suffer only from cataract; Galactitol accumulates in the lens of the eye creating an osmotic gradient that allows the glutathione from the lens to efflux. Due to this the concentration of glutathione in the lens is decreased. Glutathione peroxidase and hydrogen peroxidase are inactivated. As a result hydrogen peroxide accumulates in the lens denaturing the proteins of the lens. This leads to the production of lenticular cataracts.
Define The figure of 8 and Mattress suturing techniques The figure of 8: is placed similarly to the simple loop on the buccal aspect; however, on the lingual aspect, the needl
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List the four basic points to be kept in mind when advising food exchange. To develop the food exchange list points to keep in mind are: a) Group similar foods in one group.
Explain Procedure for Sub-Culturing of a Culture Now carry out the exercise following the steps given herewith: 1. Sterilize the inoculating loop and needle by heating to re
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Vaccinia-like disease Smallpox caused by variola virus (VARV) has successfully been eradicated in the last quarter of the 20th century. However, vaccinia like viruses (VLVs) , viz.
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