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

Name the term concerning with genetic principals of humans, Which of the be...

Which of the below refers to science concerned with the application of genetic principles to improvement of the human species? a) Eugenics b) Assortive mating c) Holandri

Define prevalence of weight management, Define Prevalence of Weight Managem...

Define Prevalence of Weight Management? WHO (1998) estimates that in developing countries about 245 million adults are moderately underweight and 93 million severely underweigh

Explain zygotic gametic meiosis - meiosis, Q. What respectively are zygotic...

Q. What respectively are zygotic gametic meiosis, meiosis and sporic meiosis? Zygotic meiosis is the one that occurs in the haplontic haplobiontic life cycle and Gametes from a

Treatment and disposal technologies for health-care waste, Q. Treatment and...

Q. Treatment and disposal technologies for health-care waste 1. Incineration 2. Chemical disinfection 3. Wet and dry thermal treatment 4. Microwave irradiation 5. L

Global Warming Prevention, Preventive steps for global warming :  Growing ...

Preventive steps for global warming :  Growing trees in vacant places. Growing social forests and protect them. Promoting abundant growth of phytoplankton plant species in marine

How fats promote absorption of fat soluble vitamins, 1. Fats promote absorp...

1. Fats promote absorption of fat soluble vitamins like vitamin A, D, E and K. Patients of cystic fibrosis often absorb fat poorly and are at-risk for fat-soluble vitamin deficienc

Explain microbiology of water, Q. Explain microbiology of water? Ans. ...

Q. Explain microbiology of water? Ans. Unlike air, natural waters contain their natural flora, as well as, microorganisms from soil and possibly from animals and se

Explain about solubility of proteins, Precipitation/Solubility of Proteins ...

Precipitation/Solubility of Proteins Most of the functional properties are  dependent on the degree to which the proteins are soluble. The solubility behaviour provides a good

Chemical substances that compose the plasma membrane, What are the chemical...

What are the chemical substances that compose the plasma membrane? Ans) The major constituents of the plasma membrane are phospholipids, proteins and carbohydrates. The phosphol

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