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

Define liposuction - surgical management for obesity, Define Liposuction - ...

Define Liposuction - surgical management for obesity? Liposuction is a cosmetic surgical procedure different from bariatric surgery. It involves aspiration of subcutaneous fat

Explain about anabolism, Q. Explain about Anabolism? Anabolism is a pro...

Q. Explain about Anabolism? Anabolism is a process of synthesis or making of larger or complex molecules from smaller molecules. The molecules are of different kinds like hormo

Leghaemoglobin - factors influencing functions of nitrogenas, Leghaemoglobi...

Leghaemoglobin - Factors Influencing Functions of Nitrogenase Leghaemoglobin is a joint product of Rhizobium and the host. It is produced during the maturation of nodule. It i

<-- that guy, thy does he look too excited in the illistration?

thy does he look too excited in the illistration?

Issues impacting health and development - limited resources, Normal 0 ...

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

Compare between isp and soy flour, Compare between ISP and soy flour Th...

Compare between ISP and soy flour The cost of isolated soybean proteins is five to seven times higher than that of defatted soy flour. On an equivalent protein weight basis, th

Terms of incubation time and the generation time, If the generation time (t...

If the generation time (t) is the incubation time (t) per generation (G), or t = t/G, rewrite the formula you derived in question 2 for bacterial population growth in terms of incu

How to removes hydrogen from fatty acids, Suppose you treated butter with a...

Suppose you treated butter with a fatty acid desaturase, an enzyme that removes hydrogen from fatty acids and creates double bonds. What would happen?

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