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

Altered protein metabolism - metabolic response to injury, Altered Protein ...

Altered Protein Metabolism - Metabolic Response to Injury? Urinary nitrogen loss is extensive following injury, Trauma accelerates nitrogen turnover. In unfed patients, tissue

Insulators - transgenic animals, Insulators Numerous experiments showed...

Insulators Numerous experiments showed that a transgene is generally poorly expressed when it contains a cDNA rather than the corresponding genomic DNA; when it is integrated a

What is the objectives of evaluation of patient clinical, What is the OBJEC...

What is the OBJECTIVES of evaluation of patient clinical examination ? After going through this unit, you should be able to: 1. Carried out the general physics-examination; 2.

Hemorrhagic enteritis, H e morrhagic enteritis in Turkeys The viral e...

H e morrhagic enteritis in Turkeys The viral etiology in turkey poults showing sudden death was first described in1930 and thereafter reported in most turkey-producing areas.

Define root canal perforations - time of treatment, Define Types of Root Ca...

Define Types of Root Canal Perforations According to the time of treatment According to the time of treatment in relation to occurrence: Fresh perforation: treated immed

What is an effect of increased temperature, What is the effect of increased...

What is the effect of increased temperature on a non enzyme catalyzed reaction? What are the effects of increased temperature on an enzyme catalyzed reaction?

Evolution of man, diffrentiate between javaman and peckingman

diffrentiate between javaman and peckingman

Embryonic induction and cell determination, Embryonic Induction and Cell De...

Embryonic Induction and Cell Determination The cell determination or fate of embryonic cells is regulated through factors which may reside within the embryonic cells or by the

Explain plain dwellers, Which two of the following changes (a - d) usually ...

Which two of the following changes (a - d) usually tend to occur in the plain dwellers when they move to high altitudes (3,500 m or more)? 1. Enhance in red blood cell size 2

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