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

Phobias, PHOBIA S - Common phobias for - Spiders Lizards Snak...

PHOBIA S - Common phobias for - Spiders Lizards Snakes Cockroach Crowded places Vast open places Closed small chambers.

Cells, What surrounds a plant cell

What surrounds a plant cell

Brookes formula, Brooke's  Formula: a)  Fluid  requirement  b)  Es...

Brooke's  Formula: a)  Fluid  requirement  b)  Estimate the accurate/approximate weight of the patient  c)  First  24  hours  Colloids (blood, plasma, dextran) 0.5 ml

Phylum arthropoda, PHYLUM ARTHROPODA Definition and Introduction ...

PHYLUM ARTHROPODA Definition and Introduction Bilateral  and protostomial eucoelomate  eumetazoa with metamerically  segmented  and each  segment bearing a pair  of  join

Define low water permeability across the luminal membranes, A healthy perso...

A healthy person is on a diet that having of very small amounts of water. A. This person will make a large volume of dilute urine with low amounts of dissolved solutes. B. T

Agro industrial-glycosides, Glycosides Calcinogenic glycosides: C...

Glycosides Calcinogenic glycosides: Certain plants contain glycosides of the active metabolite of vitamin D. The metabolite is called 1, 25-dihydroxycholecalciferol or mo

Sulphur cycle, Sulphur is one of important of proteins vitamins and hormone...

Sulphur is one of important of proteins vitamins and hormones. It plays a very crucial role in health of both plants and animals. Most of earth sulphur is tied up in rocks and salt

Explain food applications of agar, Food Applications of Agar The bakery...

Food Applications of Agar The bakery industry has been the largest user  of agar because of its heat- resistant gel properties. Confectionary products, such as agar jelly candi

Structure of vertebrate skeletal muscles, Normal 0 false fals...

Normal 0 false false false EN-IN X-NONE X-NONE MicrosoftInternetExplorer4

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