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

Determine the uses of potassium, Determine the uses of Potassium Water ...

Determine the uses of Potassium Water soluble and exchangeable potassium is readily available to plants. This is extracted with Morgan reagent (10% sodium acetate in 3% acetic

Signify the difference between bryophytes and tracheophytes, Which of the b...

Which of the below determines the major difference between bryophytes (pron: bry-oh-fites) and tracheophytes (pron: tray-key-o-fites)? a) Tracheophytes can make their own food

Explain the bohr''s model, Explain the Bohr's model? Bohr's Model :  ...

Explain the Bohr's model? Bohr's Model :  Electrons move around the nucleus at tremendous speeds and occupy most of the space in an atom. The exact position or location of an

How is the nervous system of molluscs organized, How is the nervous system ...

How is the nervous system of molluscs organized? Molluscs have well-developed sensory structures. It is established that cephalopods, such as squid and octopus, have eyes with

Define the symptoms of dry beriberi, Define the Symptoms of Dry beriberi? ...

Define the Symptoms of Dry beriberi? Early symptoms are similar to those found in wet beriberi. The muscles become progressively wasted and weak and walking becomes difficult.

Define interaction of vitamin c with nicotinic acid, Define interaction of ...

Define interaction of vitamin c with Nicotinic acid? NAD, NADP and NMN act as constituents of the hydrogen transferring coenzymes in glycolysis, Kreb's cycle and in the oxidati

Goat pox, Goat pox Goat-pox is common in occurrence, and its nature is ...

Goat pox Goat-pox is common in occurrence, and its nature is similar to sheep pox. The incubation period varies from 5 to 10 days. The disease tends to attack male kids and ewe

Pollination, how pollination occurs in Salvia?

how pollination occurs in Salvia?

Explain the coliforms - microbiological study of water, Explain the Colifor...

Explain the Coliforms - Microbiological Study of Water? These are widely used indicators which belongs to the family Enterobacteriaceae and make up about 10% of the intestinal

Define common complications with spinal trauma patients, Define Common comp...

Define Common complications with spinal trauma patients? Common complications with spinal trauma patients include pressure sores or decubitus ulcers, hypercalciuria and renal s

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