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

Birth control - temporary methods, BIRT H CONTROL - Birth control meth...

BIRT H CONTROL - Birth control methods which deliberately prevent fertilization are contraception. These methods may be temporary or permanent. 1 .       TEMPORARY MET

Name term for white blood cells producing immunoglobulins, Which of the bel...

Which of the below is a term for mononuclear, granulocytic white blood cells which produce immunoglobulins? a) Platelets b) Lymphocytes c) Erythrocytes (pron: eh-rith-reh

What is abscess and gingival biotype, What is Abscess and Gingival Biotype ...

What is Abscess and Gingival Biotype Abscess: Rule out any presence of Periapical or /and Periodontal abscess Gingival Biotype: Thickness of the gingival is an important

Difference between the concepts of food chain and food web, What is the dif...

What is the difference between the concepts of food chain and food web? The chain theory is a theoretical model to study the energy flux in ecosystems. In fact, in an ecosystem

What is the function of the immune system, What is the function of the immu...

What is the function of the immune system? The immune system performs exact defense against agents, the antigens, that are foreign or harmful to the body. Exogenous antigens

Which functional groups ionization stabilized by resonance, In which of the...

In which of the following functional groups ionization is stabilized by resonance? Select one: a. Carboxyl b. Hydroxyl c. Amine d. Aldehyde e. All of the above

Digitalis glycosides, The digitalis glycosides are the only orally active p...

The digitalis glycosides are the only orally active positive inotropic agents currently available. The positive inotropic occurs through inhibition of the enzyme Na + -K + -ATPase

What are the organic chemical groups, Q. What are the organic chemical grou...

Q. What are the organic chemical groups that describe carbohydrates? How are carbohydrates classified according to the presence of those groups? Carbohydrates are also known as

Describe the pulmonary artery, Q. Describe the pulmonary artery? The ma...

Q. Describe the pulmonary artery? The main pulmonary artery is seen on the PA view, as its left border forms the pulmonary bay. The right pulmonary artery runs horizontally to

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