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 the buffer capacity - nutritional biochemistry, Define the Buffer ca...

Define the Buffer capacity - Nutritional Biochemistry? Buffer capacity can be defined as, 'the capacity of a solution to resist changes in pH on the addition of strong acid or

Type one diabetes mellitus, Q. Type one Diabetes Mellitus? Type 1 DM oc...

Q. Type one Diabetes Mellitus? Type 1 DM occurs in children and adolescents (6-14 yrs). In this disease, the body makes little or no insulin. Daily injections of insulin are ne

Types of surgery-pulmonary regurgitation, Types of Surgery :  Pulmonary va...

Types of Surgery :  Pulmonary valve replacement using pulmonary or aortic allograft is the procedure of choice. It increases R.V. ejection fraction, decreases R.V. end diastolic p

Microorganisms that survived the preservation to the food, Microorganisms t...

Microorganisms that survived the preservation and shortage treatment applied to the food Different microorganisms have different susceptibility to the preservative methods empl

Digestive system, I want to know how does our digestive system work

I want to know how does our digestive system work

What is the activation center of an enzyme, What is the activation center o...

What is the activation center of an enzyme? Is it the key or the lock of the lock and key model? The activation center is a region of the enzyme formed by its spatial conformat

What is sick sinus syndrome, Q. What is Sick Sinus Syndrome? Ans. ...

Q. What is Sick Sinus Syndrome? Ans. When a slow resting pulse fails to accelerate normally with exercise, it has been labeled chronotropic incompetence, however, there i

Fumonisins, Fumonisins The most recently characterized mycotoxins of an...

Fumonisins The most recently characterized mycotoxins of any major significance in human health are the fumonisins produced by species of Fusarium, such as F. moniliforme. Like

Explain germ layers that form tissues and organs in animals, Q. What are th...

Q. What are the three types of germ layers that form tissues and organs in animals? The three germ layers are the mesoderm, the ectoderm and the endoderm.

Penetrating injury, Penetrating Injury Open pneumothorax (sucking c...

Penetrating Injury Open pneumothorax (sucking chest wound)  Hemothorax  Tracheobrochiaf injury  Pulmonary contusion  Mediastinal injury

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