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

What is the function of lymph nodes, Explain function of lymph nodes? L...

Explain function of lymph nodes? Lymph nodes have white blood cells which ingest bacteria and prevent them from reaching the circulation.

Ventricular septal defect might be cyanotic, A newborn baby with a patent f...

A newborn baby with a patent foramen ovale or a ventricular septal defect might be cyanotic (blue). Will a two-year-old with these defects also be cyanotic? Explain your answer.

Determine the research done with luria nebraska battery, Determine the rese...

Determine the research done with Luria Nebraska battery Research done with the Luria Nebraska battery determined 1) Whether it discriminates among brain damaged patients in

Explain the s1m filament theory of muscle contraction, Explain the s1M fila...

Explain the s1M filament theory of muscle contraction. What is special of "FlavrSavr" variety of tomato? Why is it preferred to its normal native variety? Illustrate a label

How the dna nanoarchitecturing works, Q. How the DNA nanoarchitecturing wor...

Q. How the DNA nanoarchitecturing works? DNA Nano architectures constructs that can be self-assembled from branched DNA molecules. Their components can be simple branched speci

What is streatorrhoea, Q. What is Streatorrhoea? Streatorrhoea is more ...

Q. What is Streatorrhoea? Streatorrhoea is more common in Crohn's disease due to heal resection. This may favour calcium-fatty acid complex formation and increased excretion. I

What are the result of arterial switch operation, What are the result of Ar...

What are the result of Arterial Switch operation ? The operation is highly specialised. When carried out in experienced centers the mortality for simple TGA and TGA with VSD i

Determine the ecosystem if the decomposers were eliminated, What would happ...

What would happen to the energy flow through an ecosystem if the decomposers were eliminated?  Without decomposers, the nutrients kept in the bodies and wastes of other organis

Why are broad-spectrum antibiotics used to treat infections, Why are broad-...

Why are broad-spectrum antibiotics often used to treat infections caused by unidentified pathogens? What is the danger associated with overusing such antibiotics? As broad-spec

Deficiency diseases-selenium and vitamin e deficiency, Selenium and vitamin...

Selenium and vitamin E deficiency Selenium is an essential micro-mineral required for various physiological functions and for immunity against a variety of diseases. It is an i

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