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 functionality of hot air oven, Explain the Functionality of Hot...

Explain the Functionality of Hot Air Oven? Hot air oven sterilizes the object by hot dry air. It kills the microorganisms by oxidizing cellular constituents. Dry Heat is less e

Enumerate the term - brain behaviour functioning, Enumerate the term - brai...

Enumerate the term - brain behaviour functioning The brain may be thought of as a "dependant variable" that is shaped in part by the facilitative stimulation that is experience

What is the goal of biological classification, The goals of biological clas...

The goals of biological classification The world of animal diversity is quite complex and it requires an ability to recognise similarities and differences among organisms. Class

Define the intracellular cyclic amp, Define the intracellular cyclic AMP ...

Define the intracellular cyclic AMP Healthy Person P takes a drug that makes a strong effect on the epithelial cells of the kidney collecting duct within one hour and lasts fo

Iron - mineral elements, IRON It is present in bread, potatoes, green v...

IRON It is present in bread, potatoes, green vegetables, especially spinach, lettuce, cocoa, raisins, red meat, liver, kidney, egg yolk etc. Iron is also available in the bo

Explain the properties locust bean gum, Explain the Properties Locust bean ...

Explain the Properties Locust bean gum Locust bean gum is slightly soluble in room temperature water and must be heated to 75 to 85 o C for complete hydration and viscosity dev

Define structural elements - biological functions of protein, Define Struct...

Define Structural Elements - Biological Functions of Proteins? Structural proteins are fibrous proteins. The well known of the fibrous proteins are possibly the keratins, which

Assessment of peripheral vascular disorders - history, Assessment of Periph...

Assessment of Peripheral Vascular Disorders History Obtain the following information by interviewing the patient and family members Previous vascular surgery, previ

Gene, Gene  is the fundamental physical and functional unit of the heredity...

Gene  is the fundamental physical and functional unit of the heredity (generally DNA, Some of the organisms have RNA a gene). A gene is an ordered series of nucleotides located in

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