What is phenylketonuria, Biology

Assignment Help:

Q. What is Phenylketonuria?

The essential amino acid phenylketonuria is utilized for tissue protein synthesis and hydroxylated to form tyrosine. The hydroxylation reaction requires phenylalanine hydroxylase. Phenylketonuria (PKU) is a group of inherited disorders of phenylalanine metabolism caused by impaired phenylulanine hydroxylase activity. PKU cannot break down phenylalanine into another amino acid, tyrosine. Phenylalanine then builds up in the bloodstream and causes brain damage.

Phenylketonuria, commonly referred to as PKU, occurs at the age of 3 to 6 months and is characterized by developmental delay, microcephaly (abnormally small head), abnormal electro-encephalogram, eczema, musty odour and hyper activity. Lf untreated before three weeks of age, the metabolic imbalance produces irreversible mental retardation. The defect in metabolism in classic PKU is associated with less than 2% activity of normal phenylalanine hydroxylase.


Related Discussions:- What is phenylketonuria

Explain the Process of dna technology - Enzymes, Explain the Process of dna...

Explain the Process of dna technology Procedures involving recombinant DNA technology has been used to increase the yield of enzymes already produced by the microorganisms, e.

What is osseointegration in macroscopic biomechanical, Q. What is Osseointe...

Q. What is Osseointegration in macroscopic biomechanical? A fixture is osseointegrated if there is no progressive relative motion between the fixture and surrounding living bon

Suger diabetes, what normally cause type one sugar diabetes

what normally cause type one sugar diabetes

Explain the food digestion in protozoans, In some protozoans, food is alway...

In some protozoans, food is always ingested at the same place on cell surface, cytostome (cell mouth). Undigested food is removed at a cytoproct, or cell anus. All of this is simil

What would the volume for reaction, The component is DNA. The stock concent...

The component is DNA. The stock concentration is 10mg/ml and the final concentration/amount is 25ug. What is the volume for 1 reaction? For 5 reactions?

Provide the definition of health care, Provide the Definition of Health Car...

Provide the Definition of Health Care? Health care involves much more than just medical care and can be defined as "multitude of services provided to individuals or communities

Skin., what are the main functions of basal (Malpighian)layer?

what are the main functions of basal (Malpighian)layer?

Aim of diabetes counselling, Aim of Diabetes Counselling Diabetes is a...

Aim of Diabetes Counselling Diabetes is a life-long illness. Diagnosis of diabetes has psychological and physical implications. Preventive counselling and life style change ca

What is biotechnology, What is biotechnology? Biotechnology is the appl...

What is biotechnology? Biotechnology is the application of biological knowledge to get new techniques, materials and compounds of pharmaceutical, medical, agrarian, industrial

What are the blood types of the abo blood system, What are the blood types ...

What are the blood types of the ABO blood system? The type A, the type B, the type AB and the type O are the blood types of the ABO blood system..

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