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

Abiotic factors of an ecosystem, Q. How does biological diversity relate to...

Q. How does biological diversity relate to the characteristics of the abiotic factors of an ecosystem? The ease of use of abiotic factors like light, mineral salts, moisture, h

Explain functions of proteins, Explain Functions of proteins Functions ...

Explain Functions of proteins Functions of proteins are included herewith. These include: Source of energy: Constituent amino acids can be deaminated and metabolized to

Results-types of surgery, Results: Early mortality for tricuspid valve re...

Results: Early mortality for tricuspid valve replacement is around six per cent. But depending on the patient's class of symptoms and the number of concomitant procedures, this c

Determine which is most stable, Hydrogen ( H) has 1 electron, carbond ( c) ...

Hydrogen ( H) has 1 electron, carbond ( c) has 6 electrons ; oxygen ( O) has electrons, Nitrogen ( n) HAS 7 electrons. Use the octet rule to determine which of the following is mos

Define the agar shake tube method, Define the Agar Shake Tube Method Th...

Define the Agar Shake Tube Method The agar shake tube method is useful for isolation of anaerobic microorganisms. What are anaerobic microorganisms? You may recall the theory c

Define the functions of vitamin e, Define the Functions of Vitamin E? V...

Define the Functions of Vitamin E? Vitamin E is the major lipid-soluble antioxidant in the cell antioxidant defence system and is exclusively obtained from the diet. The main r

What is the average number of minutes a cell, You have 200 cells and find 1...

You have 200 cells and find 120 in interphase, 57 in prophase, 8 in prometaphase, and 5 in metaphase, 8 in anaphase and 2 in telophase. (None in G0 phase). it takes 18 hours to com

Embryology and histology, Embryology: Embryology (from Greek words embryon...

Embryology: Embryology (from Greek words embryon which means unborn embryo and logia which means study) is a branch of science which deals with the development of an embryo starti

Signify the term - opercular gill, Signify the term - opercular gill. T...

Signify the term - opercular gill. The gill found in bony fish. Operculum is the outer covering of the gill. When it's drawn away from the body, it pulls water inside the bucca

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