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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.
Factors affecting vitamin utilization Raw soybean contains enzyme lipoxygenase which can be destroyed by heating for 5 min with steam at atmospheric pressure. Lipoxygenase cata
T ertiary Structure (3 o S tructure) Highly folded protein. Globular in structure. Tertiary structure is stabilised by five types of bonds : (i ) P
In studies of human body, which of the following terms will be used to explain the lack of voluntary control of urination or voiding of bladder? Is it a) Anuria b) Incontine
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Foods that are frequently incriminated in staphylococcal food poisoning include meat and meat products, poultry and egg products, egg, tuna, chicken, potato and macaroni, bakery pr
Aortic Valve Repair : In, acquired AR associated with VSD and prolapse of a cusp, repair is often successful. VSD is closed and at the same time the prolapsed part of
Q. Why are pteridophytes more common in humid places? Pteridophytes are more common in humid places since they depend on water for their gametes to fecundate one another. In hu
Nuclease is an enzyme which degrades the nucleic acids. A nuclease can be DNA-specific (a DNase), RNA-specific (RNase) or non-specific. It might act only on single stranded nuclei
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