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 the loss of carotenoids, Explain the loss of carotenoids In pro...

Explain the loss of carotenoids In processing fruits and vegetables, loss of carotenoids into cooking or canning water is very slight. However, carotenoids undergo oxidation wh

Illustrate the metabolic processes of vitamin B, Illustrate metabolic proce...

Illustrate metabolic processes of vitamin B In the human and animal metabolism, they form a functional unit, since, as components of the various coenzymes, they are essential

Kingdom protists, phyla of animal like protists that have free living membe...

phyla of animal like protists that have free living members

State about osteogenesis, State about osteogenesis Embryologically, ost...

State about osteogenesis Embryologically, osteogenesis may be classified as either intramembranous or endochondral. When the ossification occurs directly, it is defined as intr

Morphological nature of endosperm, Morphological Nature of Endosperm ...

Morphological Nature of Endosperm The morphological nature of endosperm in angiosperms has been a subject of much discussion in evolution. The endosperm in gymnosperms is a g

Define requirements of calcium during pregnancy period, Define requirements...

Define requirements of Calcium during pregnancy period? The foetus retains about 25-30 g of calcium, over the course of gestation, most of which is deposited in the last trimes

Define recommended dietary allowance for pyridoxine (rda), Define Recommend...

Define Recommended Dietary Allowance for pyridoxine (RDA)? Average requirements for pyridoxine vary with age, sex and physiological conditions such as protein status, pregnan

What factor cause the measurement to change, During gym class Sally noticed...

During gym class Sally noticed that her friend Melissa always ran faster than her. Sally knew that they exercised equally, so she wondered what could cause Melissa to run so fast.

Explain surlyn film, Q. Explain Surlyn film? Surlyn films: Surlyn (SU) ...

Q. Explain Surlyn film? Surlyn films: Surlyn (SU) is a versatile film which is sometimes favoured over polyethylene due to some unique properties such as excellent moisture b

What is biotechnology, What is biotechnology? The Biotechnology is the ...

What is biotechnology? The Biotechnology is the application of biological knowledge to obtain new techniques, materials and compounds of pharmaceutical, medical, agrarian, indu

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