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

Explain the small intestine, Explain the Small Intestine? The small int...

Explain the Small Intestine? The small intestine is made up of three sections, the duodenum, the jejunum, and the ileum. Bile from the liver and pancreatic enzymes are released

Eexplain importance of mitosis for the embryonic development, What is the i...

What is the importance of mitosis for the embryonic development? Every embryo grows from a single cell that suffers mitosis and operates other cells that also divide themselves

Nervous system and nerve cells, Normal 0 false false false ...

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

Physical state of protoplasm, PHYSICAL STATE OF PROTOPLASM Several theo...

PHYSICAL STATE OF PROTOPLASM Several theories have been given about its physical structure - (i )  Granular Theory (Proposed by Altman, Hanstein, 1886) - Granules embed

Explain surgery process for head and neck tumor, Define Surgery Process for...

Define Surgery Process for Head and Neck Tumor? Treatment mostly involves combination of surgery and radiation. Chemotherapy is also used in some cases, we will learn about the

Salivary analyse works on foods, Explain how salivary amylase works on food...

Explain how salivary amylase works on foods like crackers

Why heartwood differs from sapwood, Heartwood differs from sapwood in: 1...

Heartwood differs from sapwood in: 1. Presence of rays and fibres 2. Absence of vessels and parenchyma 3. Having dead and non-conducting elements 4. Being susceptible t

Calculate the volume of a 25% urethane, Assume that the blood volume of a r...

Assume that the blood volume of a rabbit is 0.5 liters. If the effective dose of the anesthetic urethane is 10 µgrams/ml of blood, calculate the volume of a 25% urethane solution t

What is coevolution, What is Coevolution ? There is considerable eviden...

What is Coevolution ? There is considerable evidence that supports an interesting theory that two individual species can affect each others evolution in reciprocal fashion. In

Explain the occurrence of vitamin B6, Explain the Occurrence of vitamin B 6...

Explain the Occurrence of vitamin B 6 Vitamin B 6 activity is attributed to the 3 compounds-pyridoxol (pyridoxine), pyridoxal and pyridoxamine, generally comprised in the vit

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