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

What are flagella and cilia, Q. What are flagella and cilia and how do thes...

Q. What are flagella and cilia and how do these structures acquire movement? What are some examples of flagellated and ciliated cells in humans? Flagella and Cilia are structur

Explain the modern trends in animal taxonomy, Explain the Modern Trends in ...

Explain the Modern Trends in Animal Taxonomy? Earlier you learnt how taxonomy is interrelated to other biological fields. You also learnt how information is used from other f

Bacteria, Bacteria The study of bacteria is called bacteriology. Bacte...

Bacteria The study of bacteria is called bacteriology. Bacteria are unicellular organisms and possess a distinct cell wall. They are included in kingdom Prokaryote. The bacter

Explain some limitations of most probable number, Explain some Limitations ...

Explain some Limitations of Most Probable Number? 1. Large quantity of glassware is required. 2. Colony morphology cannot be determined. 3. It lacks precision.

Concomitant caroid endarterectomy and cabg, Concomitant caroid endarterecto...

Concomitant caroid endarterectomy and CABG :   Symptoimatic or asymptomatic carotid artery disease may be present in patients undergoing CABG. It is very important to recognize thi

What is the normal duration of the menstrual cycle, Q. What is the normal d...

Q. What is the normal duration of the menstrual cycle? How does the calendar contraceptive method work? The normal duration of the menstrual cycle is 28 days but it can vary am

Preliminary screening stage of battery, Preliminary screening stage of batt...

Preliminary screening stage of battery During the preliminary screening stage in the development of the battery, items in the original pool that did not attain satisfactory int

Define the effect of deficiency of vitamin c, Define the effect of Deficien...

Define the effect of Deficiency of Vitamin C? Severe ascorbic acid deficiency results in the development of the disease known as scurvy, three important manifestations of scur

What is the senses explain their vision , What is the Senses explain their ...

What is the Senses explain their Vision ? Vision :  The human eye consists of structures which evolved together to focus light on a sensitive area called the retina. Light f

Pathogenesis, The interactions between the human host and selected microorg...

The interactions between the human host and selected microorganisms that culminate in IE involve the vascular endothelium, hemostatic mechanisms, the host immune system, gross anat

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