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 metabolic alterations during cancer, Explain the Metabolic Alte...

Explain the Metabolic Alterations during Cancer? As we have studied earlier, patients with advanced cancer experience profound anorexia, early satiety, changes in the structure

Example of trial balance columns, Q. Example of Trial Balance columns? ...

Q. Example of Trial Balance columns? Start by extending all of Micro Train's revenue and expense account balances in the Adjusted Trial Balance columns to the Income Statement

What is moderate level of lactase activity, Q. What is Moderate level of La...

Q. What is Moderate level of Lactase activity? Intake of milk is restricted depending on the tolerance. Fermented and cooked form of milk should be preferred as it is better to

Flavour of food product, Q. Flavour of food product? Flavour factors in...

Q. Flavour of food product? Flavour factors include both sensations perceived by the tongue, which include sweet, salty, sour and bitter tastes and aromas perceived by the tong

Types of mental disorder, TYPES OF MENTAL DISORDER - 1 .       Psycho...

TYPES OF MENTAL DISORDER - 1 .       Psychosis 2 .       Neurosis 3.       Personality & character disorders 1 .       PSYCHOSIS - It effects mental capa

What are some examples of interspecific competition, What are some examples...

What are some examples of interspecific competition? Examples of interspecific competition are: the dispute between vultures, worms, flies and microorganisms for carrion and th

Determine the digestion of carbohydrates, How does the pancreatic juice res...

How does the pancreatic juice resume the digestion of carbohydrates? What is the involved enzyme? Carbohydrate digestion starts with the action of the salivary amylase (ptyalin

collection of solid waste, There are three methods of collections: 1.  ...

There are three methods of collections: 1.      Kerbside collection: In this collection system the refuse is brought in containers and placed on the footway, from where it is

Second stage of invagination, Second Stage of Invagination The 2 nd s...

Second Stage of Invagination The 2 nd stage of invagination starts with release of secondary mesenchyme from the tip of archenteron into the blastocoel. The cells of secondar

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