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

Describe the working of immune system, Q. What is the function of the immun...

Q. What is the function of the immune system? The immune system performs specific defense against agents the antigens that are harmful to the body or foreign. Exogenous anti

Process of stabilize lipoprotein structure, Q. Process of stabilize lipopro...

Q. Process of stabilize lipoprotein structure? Ans. Apoproteins not only stabilize lipoprotein structure but also have other important regulatory functions in lipoprotein

What is the thermopenetration concept, What is the thermopenetration concep...

What is the thermopenetration concept? The pasteurization of products packed in glass containers leads to a problem of a specific nature, which is referred to as 'thermopenetra

Connective tissue, how connective tissues are like an estuary

how connective tissues are like an estuary

What are antibodies, Question 1 Write a short note on the following- ...

Question 1 Write a short note on the following- Theory of clonal selection Interferons Super antigens Helper T cells Auto immunity Active Immunization

Process of determination of vitamin B12, Determination of vitamin B 12 ...

Determination of vitamin B 12 Spectrophotometric determination of the characteristic ultraviolet absorption is suitable for the determination of pure vitamin B 12 or of pure

Define absorption of calcium from dietary calcium supplement, Define Absorp...

Define Absorption of Calcium from dietary calcium supplements? Absorption from dietary calcium supplements is important to know, since they are almost universally recommended f

Oxusome, structure of oxysome

structure of oxysome

What is the kind of reproduction that occurs in roundworms, Q. What is the ...

Q. What is the kind of reproduction that occurs in roundworms? What usual feature do nematode sperm cells have? Nematodes reproduce sexually. The nematode sperm cell does not h

Complications in dyslipidemia, Q. Complications in dyslipidemia? The co...

Q. Complications in dyslipidemia? The complications include: • Pancreatitis • Progressive atherosclerosis or asymptomatic coronary. Excess of triglycerides (hypertrigl

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