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

Explain mixture in basic chemistry, Explain mixture in basic chemistry? ...

Explain mixture in basic chemistry? Mixtures :  Mixtures are produced by combining two or more substances. In contrast to the substances in compounds, the substances that com

What is the single tooth implant case, In Single Tooth Implant Case: a)...

In Single Tooth Implant Case: a) Vertical distance available between the crest of residual ridge to the opposing occlusal surface. At least 7 mm space is required to a cementab

Daily torpor, Normal 0 false false false EN-IN X-NONE...

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

Fission - asexual reproduction, Normal 0 false false false ...

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

What vector force does particle b then exert on a, A charged particle A exe...

A charged particle A exerts a force of 2.39uN to the right on charged particle B when the particles are 12.3 mm apart. Particle B moves straight away from A to make the distance be

Density independent factors, Density Independent Factors Density inde...

Density Independent Factors Density independent factors are the extrinsic factors which tend to regulate the density of a population in ways that are not correlated with its

Viral diseases - avian encephalomyelitis, V i ra l Diseases A v ...

V i ra l Diseases A v ian encephalomyelitis This is enterovirus disease of chicken, pheasants, turkeys and Japanese quails caused by the member of the family Pi

10 mcq question of plants, 10 mcq question in the topic of plants of 9th st...

10 mcq question in the topic of plants of 9th standard

Explain the groups of diabetes food pyramid, Explain the groups of diabetes...

Explain the groups of diabetes food pyramid The six groups of diabetes food pyramid are shown in Figure below. 1) Fat, oils and sweets (smallest group) 2) Milk 3) Mea

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