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

Conditions necessary for outbreak in salmonellosis, Q. Conditions Necessary...

Q. Conditions Necessary for Outbreak in salmonellosis? The food must contain or become contaminated with the Salmonella bacteria. These bacteria must be there in considerable n

Explain the coverage of ecology and evolution, Coverage of Ecology AND Evol...

Coverage of Ecology AND Evolution to include: Ecology Impact of HTC and/or IRC on chemical usage and the ecological and/or evolutionary impact of the chemical usage

Tautomeric shifts, The original DNA sequence when ,transcribed and translat...

The original DNA sequence when ,transcribed and translated would yield five successive valine residues. But the altered sequence would correspondingly read one aspartate and four s

What is polysaccharides, Polysaccharides are vast chains of sugar units joi...

Polysaccharides are vast chains of sugar units joined together.  The chains should be branched or linear depending on the polysaccharide.  In  animals,  excess glucose is stored as

Diagnosis of diabetes mellitus, Q. Diagnosis of diabetes mellitus? Time...

Q. Diagnosis of diabetes mellitus? Timely and proper diagnosis plays a key role not only in identifying new cases but also in managing old cases with or without diabetic compli

Steroid and thyroid hormones, Steroid and Thyroid Hormones Cytoplasmic...

Steroid and Thyroid Hormones Cytoplasmic receptors for steroids are proteins with two subunits that bind to the steroid molecules. When both receptor sites are occupied by the

How many biochemicals would be detected, How many biochemicals would be det...

How many biochemicals would be detected in the stomach contents of an omnivorous dinosaur?

Edema, Ed e m a It refers to excessive accumulation of fluid in tiss...

Ed e m a It refers to excessive accumulation of fluid in tissue spaces caused by disturbance in the fluid interchange between capillaries, tissue spaces and lymphatic vessel

Action of hormones, Action of Hormones We said earlier that hormones a...

Action of Hormones We said earlier that hormones are released into the blood stream or extracellular fluid and therefore, reach most of the cells of the body. However, they

#title.animal biodiversity., why obelia is considered to be of special inte...

why obelia is considered to be of special interest in zoology ass an animal showing intermediate grade of organisation

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