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

What is vascular, Vascular Preoperative administration of a cephalospor...

Vascular Preoperative administration of a cephalosporin decreases the incidence of postoperative surgical site infection after arterial reconstructive surgery on the abdominal

What is class crinoidea, What is Class Crinoidea? This Class includes t...

What is Class Crinoidea? This Class includes the sea lilies and the feather stars. What makes them different from the other Echinoderms is the placement of their mouth and anus

Bacterial diseases- black quarter, Black quarter Synonym: BlacklegBlack...

Black quarter Synonym: BlacklegBlack-quarter (BQ) is an acute infection but a non-contagious disease characterized by inflammation of skeletal and cardiac muscles, severe toxae

What is the function of the antidiuretic hormone, Q. What is the function o...

Q. What is the function of the antidiuretic hormone? Where it made and which is the stimuli that increase or reduce its secretion? The antidiuretic hormone is secreted by the h

Muscular tissue, MUSCULA R TISSUE Muscular tissue in general develop...

MUSCULA R TISSUE Muscular tissue in general develops from the mesoderm of the embryo but the muscles of the iris of the eye and myoepithelial cells of the salivary, mammar

Criticism of lamarckism, point out the criticism of lamarckism in any six s...

point out the criticism of lamarckism in any six short points.

What is glucose tolerance test, Q. What is Glucose Tolerance Test? Gluc...

Q. What is Glucose Tolerance Test? Glucose Tolerance Test (GTT) is used for diagnosis of diabetes mellitus. In this test, blood sugar levels are measured after giving glucose

Blood formation, why are blood formed at bones or joints

why are blood formed at bones or joints

Define about the carbohydrates - nutritional biochemistry, Define about the...

Define about the Carbohydrates - nutritional biochemistry? Carbohydrates, you should observe by now, are made up of carbon, hydrogen and oxygen only with hydrogen and oxygen at

Evaluation of osseointegration, Q. Evaluation of osseointegration? All ...

Q. Evaluation of osseointegration? All the parameters of proper implant selection, atraumatic sequential osteotomy preparation and the attainment of primary stability are focus

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