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

Define vapour pressure - properties of solutions, Vapour Pressure The i...

Vapour Pressure The intermolecular forces in a liquid prevent most molecules from escaping from the surface. However, due to molecular collisions, some molecules have sufficien

What is nuclear pollution, What is nuclear pollution? Nuclear pollution...

What is nuclear pollution? Nuclear pollution having of radiations emitted from atomic nuclei, these radiations is highly injurious to living beings. They can be originated from

Which hormones secreted by adrenal medulla, Q. What are the hormones secret...

Q. What are the hormones secreted by the adrenal medulla? What are their respective functions? The medullary portion of the adrenals secretes hormones of the catecholamine grou

Determine the term clade, Determine the term Clade? In cladistic taxono...

Determine the term Clade? In cladistic taxonomy, how groups of animals are related to each other. It includes the ancestral group and all of the other groups, or lineages, of a

Additional substances does a plant need to make amino acid, a) What additio...

a) What additional substances does a plant need to make amino acids and proteins from glucose? b) Where do these substances come from?   (a) To make amino acids

Regulation of testicular, Normal 0 false false false EN...

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

What is the structural flat representation of an amino acid, What is the st...

What is the structural flat representation of an amino acid molecule? An amino acid has a central carbon to which a carboxyl group binds on a side and to which a -R (variable r

Explain the primary function of blood, Explain the primary function of bloo...

Explain the primary function of blood? The primary function of the blood to transport oxygen from the lungs to body tissues for interior respiration. The blood helps in maintai

Explain the drug effects on absorption of nutrients, Explain the Drug Effec...

Explain the Drug Effects on Absorption of Nutrients? Many drugs can impair, prevent or reduce absorption of nutrients due to: Formation of insoluble complexes: many drugs

What is the properties of aqueous solutions, Which of the following is TRUE...

Which of the following is TRUE about the properties of aqueous solutions? Select one: a. A pH change from 5.0 to 6.0 reflects an increase in the hydroxide ion concentration (

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