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

Symptoms of inflammatory bowel disease, Q. Symptoms of inflammatory bowel d...

Q. Symptoms of inflammatory bowel disease? Inflammatory bowel diseases are associated with: • Abdominal cramping, diarrhoea • Steatorrhoea • Obstruction caused due t

Parenchymal inflammation, Parenchymal Inflammation Parenchymal inflamm...

Parenchymal Inflammation Parenchymal inflammation can be due to infectious diseases or acute bronchitis or pneumonia discussion will be mainly on pneumania in the following t

What is composition, What is Composition? Blood consists of red blood c...

What is Composition? Blood consists of red blood cells, white blood cells, and platelets, suspended in a straw-colored liquid called plasma. If whole blood is centrifuged, abou

Clinical features of tricuspid regurgitation, Q. Clinical Features of tricu...

Q. Clinical Features of tricuspid regurgitation? Patients with severe primary tricuspid regurgitation will have symptoms of fatigue, dyspnoea and effort intolerance, abdominal

Explain change in body composition of infants, Explain Change in body Compo...

Explain Change in body Composition of infants? The weight gain comprise of growth in the muscle, organ tissue, adipose and skeletal structure. One compartment of body which reg

What a cell with a euploid number of chromosomes contains, A cell with a eu...

A cell with a euploid number of chromosomes contains: A.one half of a complete set of chromosomes B.several complete sets of chromosomes C.the correct number of chromosomes D.two c

Lipids, Lipids Lipids are oily or greasy organic compound forming about...

Lipids Lipids are oily or greasy organic compound forming about 3% of protoplasm. These are also compound of carbon hydrogen and oxygen but unlike carbohydrates. The hydrogen a

Explain 3rd type of hypersensitivity, It is immune difficult mediated hype...

It is immune difficult mediated hypersensitivity. Typical manifestations contain rheumatoid arthritis, serum sickness, necrotizing etc.

Pathophysiology of aortic regurgitation, Q. Pathophysiology of aortic regur...

Q. Pathophysiology of aortic regurgitation? Left ventricle responds to chronic aortic regurgitation by chamber dilatation and an increase in its compliance so that end diastoli

Inheritence, What is inheritence and what is the relation between mendel an...

What is inheritence and what is the relation between mendel and darwin?

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