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

Characteristics of river systems, Characteristics of River Systems Th...

Characteristics of River Systems The basic function of the rivers is to convey surplus rain water from land to sea. Annually the rivers carry fresh water, equivalent to 25 cm

Do you know what the recommendations for fibre are, Do you know what the re...

Do you know what the recommendations for fibre are? Well, the crude fibre intake should be 14 g/1000 Kcal. For adult woman 25 g/day and for adult man 38 g/day is desirable.

What is the typical feature of the epithelia, Q. What is the typical featur...

Q. What is the typical feature of the epithelia? How different is it from the connective tissue? The typical feature of the epithelium is the almost absence or absence of space

Why is cartilage more flexible than bone, Why is the cartilage more flexibl...

Why is the cartilage more flexible than bone? in general, why does cartilage take longer to repair than bone?

Becoming online tutor, how can i work with u as an online biology tutor?

how can i work with u as an online biology tutor?

Define body mass index (bmi), Define Body Mass Index (BMI)? Weight for ...

Define Body Mass Index (BMI)? Weight for height as a marker of nutritional status has the advantage that it is independent of other factors that affect foetal outcome such as m

Antinutritional factors, Antinutritional factors Unconventional feed resou...

Antinutritional factors Unconventional feed resources including many agriculture by-products are rich in  antinutrients and toxic constituents, and tannins being the most widely o

Which type neurons work for spinal arch reflex, Q. Which are the kinds of n...

Q. Which are the kinds of neurons that participate in the spinal arch reflex? Where are their cell bodies situated? In the arch reflex first a sensory neuron located in the gan

Advantages of autonomous transactions, Advantages of Autonomous Transaction...

Advantages of Autonomous Transactions An autonomous transaction, once started is fully independent. It shares no locks, resources, or commit-dependency with the main transacti

Codominance, explain the genotypes for each blood type and how this is an e...

explain the genotypes for each blood type and how this is an example of codominance. Blood type- A, AB, B, 0

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