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

Angiotensin-converting enzyme inhibitors, Angiotensin Converting Enzyme Inh...

Angiotensin Converting Enzyme Inhibitors (ACEI) has shown to reduce mortality in heart failure to the tune of 16-30 per cent in various large trials. The renin-angiotensin-aldos

What is the importance of vitamin D, Importance of vitamin D Vitamin D ...

Importance of vitamin D Vitamin D is mainly involved in the  calcium and phosphate metabolism. It usually promotes absorption of calcium and inorganic phosphate from the intest

What is the diffusion, Q What is the diffusion? Diffusion is the spread...

Q What is the diffusion? Diffusion is the spreading of substance molecules from a region where the substance is further more concentrated to another region where it is less con

What is eutrophication, What is eutrophication" describe its consequences o...

What is eutrophication" describe its consequences on the life of plants and animals living in such waters. Why is oxygen depletion in a eutrophicated water-body faster at nigh

Define biodiversity and ecosystem stability, Define Biodiversity and ecosys...

Define Biodiversity and ecosystem stability? Human's have transformed ecosystems all through the world, frequently replacing diverse natural ecosystems with ecosystems which ar

Determine the maximum crop yield, Determine the maximum crop yield In ...

Determine the maximum crop yield In determining maximum crop yield it was thought that a given plant let us say corn, is only inherently capable of producing a given amount of

What are the two major morphological patterns of cnidarians, Q. What are th...

Q. What are the two major morphological patterns of cnidarians? Concerning locomotion how do these forms differentiate from each other? Morphologically, cnidarians classify as

Uricotelic excretion essential for avian and reptile embryos, Why is the ur...

Why is the uricotelic excretion essential for avian and reptile embryos? In reptiles and birds the excretory system is uricotelic as uric acid is insoluble, less toxic and sui

Postparturient haemoglobinuria, Post pa r turient haemoglobinuria It...

Post pa r turient haemoglobinuria It is also known as puerperal haemoglobinuria or nutritional haemoglobinurea and results in intravascular haemolysis, haemoglobinuria and a

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