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

Define the foam mat drying method, Define the Foam Mat Drying Method? T...

Define the Foam Mat Drying Method? This process is a development of the vacuum puffing but, instead of employing a vacuum to foam the material, it is initially foamed by suitab

Basic principles of emergency psychiatry, BASIC PRINCIPLES OF EMERGENCY PSY...

BASIC PRINCIPLES OF EMERGENCY PSYCHIATRY:   Nurses handling psychiatric  emergencies should keep the following principles in mind:  The initial approach to a clienvpatien

Mammalian testis, Normal 0 false false false EN-IN X-...

Normal 0 false false false EN-IN X-NONE X-NONE MicrosoftInternetExplorer4

Homeostasis , Homeostasis Homeostasis may be defined as the maintenan...

Homeostasis Homeostasis may be defined as the maintenance of constancy in the internal environment of the organism. This is essential for maintenance of life. Without homeost

Poultry and duck diseases-avian reovirus infections, Avian reovirus infecti...

Avian reovirus infections There are several avian reoviuses isolated from chicken, turkey and other species of birds. They are associated with arthritis (tenosynovitis), respir

Explain in brief about cytokines, Cytokines activate inflammatory cells lik...

Cytokines activate inflammatory cells like neutrophils and eosnophils.IL-5 is important in activation of eosnophils, IL-4 enhances IgE production by B-cells. IL-4, Il-5, IL-6, TNF-

Calculate the number of drops of the stock solution, Assume that you have a...

Assume that you have a stock solution of epinephrine at a concentration of 1mg/ml. Further assume that there are 20 drops/ml. a. Calculate the number of drops of the stock solution

Define information required for management of emergencies, Define Informati...

Define Information Required for Management of Emergencies? Management or intervention needs accurate information about the actual situation and includes many non-nutritional co

Respiration, Why is the skin on worms, the gills in fish, and the lungs in ...

Why is the skin on worms, the gills in fish, and the lungs in humans good epithelial surfaces for respiration?

Define the growth and development of the infant, Define the Growth and Deve...

Define the Growth and Development of the infant? Infancy is a period of rapid growth. During the first year of life, the infant grows and develops far more rapidly than at any

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