What is galactosemia, Biology

Assignment Help:

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.


Related Discussions:- What is galactosemia

Explain metabolic changes during infection, Explain Metabolic changes durin...

Explain Metabolic changes during infection With  the rise  in body  temperature above normal (98.4 0 F or 37°C) due  to infection several metabolic changes occur  in  the body

Control of soil pollution, Following steps must be taken: Domestic an...

Following steps must be taken: Domestic and industrial garbage should be profitably utilized. Compost pits and installation of Gobar-gas plant in rural areas must be encourag

TISSUES, HOW TO WRITE A CONCLUSION ON A ASSIGNMENT OF EPITHELIAL TISSUES

HOW TO WRITE A CONCLUSION ON A ASSIGNMENT OF EPITHELIAL TISSUES

Respiration, explain the respiration that takes place in different organism...

explain the respiration that takes place in different organisms??

What are fossils, What are fossils? The Fossils are petrified vestiges ...

What are fossils? The Fossils are petrified vestiges of beings that lived in the past conserved by chemical and geological processes and found within rocks and sedimentary stra

What event marks the beginning of the menstrual cycle, What event marks the...

What event marks the beginning of the menstrual cycle? What is the blood concentration of FSH, LH, estrogen and progesterone in this phase of the cycle? By convention the menst

Illustrate about insulin devices - insulin pen, Insulin Devices - Insulin P...

Insulin Devices - Insulin Pen Insulin pen is an insulin injection system. A pen consists of disposable needle, a vial of insulin and a pen. There are two pen systems replac

Show photosynthesis process in algae and plants, Q. Which all are the livin...

Q. Which all are the living beings that carry out photosynthesis? Which is the cell organelle responsible for the absorption of light for the photosynthesis process in algae and pl

Basic principles involved ark, Q. Basic principles involved ark? The ba...

Q. Basic principles involved ark? The basic principles involved ark: The individual must be treated as such and for that careful initial history - daily living situation, a

Write Your Message!

Captcha
Free Assignment Quote

Assured A++ Grade

Get guaranteed satisfaction & time on delivery in every assignment order you paid with us! We ensure premium quality solution document along with free turntin report!

All rights reserved! Copyrights ©2019-2020 ExpertsMind IT Educational Pvt Ltd