Explain inborn errors of metabolism, Biology

Assignment Help:

Q.  Explain Inborn Errors of Metabolism?

Some of the disorders caused by inborn error of metabolism namely phenylketonuria, tyrosinemia, maple syrup urine disease, homocystinuria and galactosemia. You may recall studying about these metabolic disorders. An inborn error of metabolism is a genetic error that alters the production of a protein. In many cases, the protein is an enzyme. When the enzyme is absent, the functions that depend on that enzyme cannot proceed. Incompletely metabolized products accumulate in the body. This leads to a variety of problems and in many cases it becomes fatal. Further, this imbalance creates problems in other metabolic pathways that add to existing problem. The goal of therapy is to prevent the accumulation of toxic metabolites and to replace essential nutrients that are deficient as a result of the defective metabolic pathway.


Related Discussions:- Explain inborn errors of metabolism

Mention causes of implant failure due to restorative problem, Mention cause...

Mention causes of implant failure due to restorative problems. 1) Restorative problems: a) Excessive cantilever. b) Use of implants with rigid prosthetic connection with

Extremes of heat and cold, Extremes of Heat and Cold Deserts are region...

Extremes of Heat and Cold Deserts are regions of aridity with rainfall of less than 20 cm per year and the soil, though L, fertile, is too porous to retain any water. In summer

Egg - synergids, Egg - Synergids The three cells of the egg apparatus ...

Egg - Synergids The three cells of the egg apparatus are arranged in triangular fashion with the egg sharing a common wall with the two synergids and the central cell. In the

#tit, what three connective tissues are liquid

what three connective tissues are liquid

Epimorphic regeneration, Epimorphic Regeneration In this sort of regen...

Epimorphic Regeneration In this sort of regeneration the lost part is reformed and restored via the growth of a bud or blastema from the remaining part of the organism followe

Determine the nutritional and functional role of minerals, Minerals :-Copp...

Minerals :-Copper Food Source      Organ meats, sea foods, nuts, seeds Nutritional Functional role Essential nutrient: Deficiency is rare. Catalyst: Lipid perox

Fructose-1, Fructose-1,6-bisphosphate  and Fructose-6-phosphate : The  conv...

Fructose-1,6-bisphosphate  and Fructose-6-phosphate : The  conversion of  fructose-1,6- bisphosphate  to fructose-6-phosphate is  catalysed by fluctose-1,6-bisphosphatase  which  i

Basic principles of planning diets for diabetes, Q. Basic principles of pla...

Q. Basic principles of planning diets for diabetes? The above objectives can be met by adhering to some of the basic principles of planning diets which include the consideratio

Filariasis, Filariasis Filariasis is a chronic infection caused by filarid...

Filariasis Filariasis is a chronic infection caused by filarid worms. Around 10 species of Filaridae family are parasitic to man. Adult worms live in the tissues or body cavities

Response to cold - responses of plants to stress, Response to Cold - Respon...

Response to Cold - Responses of Plants to Stress Let us first see what happen to a plant when it is exposed to a cold climate with temperatures below 0°C. If the temperature i

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