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

Geographic speciation, In almost all animal groups, the mode of speciation ...

In almost all animal groups, the mode of speciation is geographic speciation. It is essential that a population which is a prospective new species is geographically isolated from t

What do you mean by oxalates, Q. What do you mean by Oxalates? Oxalates...

Q. What do you mean by Oxalates? Oxalates are widely distributed in plant foods mostly in the form of calcium salts. Oxalates are known to interfere with calcium absorpti

Microscopic examination of sputum, Question 1 Discuss briefly the collecti...

Question 1 Discuss briefly the collection and examination of pericardial fluid Question 2 Discuss the following Collection of CSF Physical examination of CSF

Explain haccp, HACCP Normal 0 false false false ...

HACCP Normal 0 false false false EN-IN X-NONE X-NONE MicrosoftInternetExplorer4

Proteins, Proteins Proteins are continually synthesised in the cells a...

Proteins Proteins are continually synthesised in the cells as they are the principal component required for growth. Proteins are composed of amino acids which are derived larg

State the number of nuclear dna molecules, For each of the following stages...

For each of the following stages, state the number of nuclear DNA molecules in one of your cells (i.e., 23,46, or...) and its ploidy (i.e.,n, 2n, or...). 1.) Prophase of mitosis

Aves, Flighting adaptations in birds

Flighting adaptations in birds

What is light reaction, What is light reaction? Light reactions are rea...

What is light reaction? Light reactions are reactions, which are initiated by light (also photo-induced reactions). Usually, light energy is change into chemical energy.

Explain the solubility in water of dietary fibre, Explain the Solubility in...

Explain the Solubility in Water of dietary fibre? Fibres that dissolve in hot water are soluble and those that do not, are insoluble. Several structural features affect solubil

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