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 medical nutrition therapy, Medical Nutrition Therapy Medical Nu...

Medical Nutrition Therapy Medical Nutrition Therapy  (MNT) is defined as  the  assessment of  the  nutritional status of  a client  followed  by  nutrition  therapy ranging Pon

# FUNGAL NUTRITION, Write on spoilage of food products by fungi,nutrition,c...

Write on spoilage of food products by fungi,nutrition,condition for growth,consequencies and prevention.

Define high density lipoproteins, Q. Define High Density Lipoproteins ? ...

Q. Define High Density Lipoproteins ? High density lipoproteins (HDL) are the smallest of the lipoprotein species and transport approximately 20 to 30 per cent of plasma choles

Fertilization in earthworm, In earthworms, when the ovaries mature, the cli...

In earthworms, when the ovaries mature, the clitellum secretes a viscous substance in the form of a girdle. This girdle hardens in to a cocoon around the clitellum. The ova are dis

Low protein products, Foods with moderate amounts of protein can be eaten i...

Foods with moderate amounts of protein can be eaten in limited amounts. These foods include grains, bread, pasta, rice, potatoes, corn, and peas. Foods with little or no protein ar

Obelia, economic importance

economic importance

Controlled percussive instruments, Percussive instruments -this method...

Percussive instruments -this method used a selected and controlled percussive removal force -Instruments delivers an impact either directly to a restorative or indirectly t

Name two foods which are a good source of this vitamin, a) Which vitamin he...

a) Which vitamin helps to maintain resistance to infectious diseases? b) Name two foods which are a good source of this vitamin.   a) Vitamin A (retinol) helps m

Relaxin - reproduction, Normal 0 false false false EN-I...

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

Explain food intolerances, Food Intolerances Food Intolerances:  The in...

Food Intolerances Food Intolerances:  The intolerances of  the patient for specific food  items must be assessed. For example,  milk may lead  to diarrhoea  in some people whil

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