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 somatic cell, For a somatic cell with 2n = 4, which of the followin...

For a somatic cell with 2n = 4, which of the following is true? (Note: G1- growth phase 1, G2 - growth phase 2, M - metaphase, P - prophase and T - telophase) a.  (Number of

Defects of heart, DEFECT S OF HEART 1 .      Blue Baby syndrome (Cya...

DEFECT S OF HEART 1 .      Blue Baby syndrome (Cyanosis) - Due to persisting foramen ovalis in atrial septum even after birth, the impure blood from right auricles comes to

Define nutritional management of severe anorexia nervosa, Define nutritiona...

Define nutritional management of severe anorexia nervosa? The nutritional management of severe anorexia nervosa is therefore, considered in terms of three consecutive phases:

What are the vascular bundles, What are the vascular bundles? How does conf...

What are the vascular bundles? How does configuration of the vascular bundles within the stem differentiate monocots from dicots? The Vascular bundles are segments of xylem and

Explain sexual reproduction, Explain Sexual Reproduction ? In most hig...

Explain Sexual Reproduction ? In most higher organisms, replication occurs by sexual reproduction. Sexual reproduction begins with a process called meiosis. The products of me

What are the major theoretical models, Q. What are the major theoretical mo...

Q. What are the major theoretical models that try to explain the formation of the enzyme-substrate complex? There are two major models that explain the formation of the enzyme-

Define defensive proteins - biological functions of proteins, Define Defens...

Define Defensive Proteins - Biological Functions of Proteins? These proteins protect in opposition to diseases. Antibodies are the instance of defensive proteins. These combat

Write the blood sugar in normal range and range in diabetes, Q. Write the b...

Q. Write the blood sugar in normal range and range in diabetes? Normal           Diabetes mellitus >126 mg / dl >200 mg / dl

Materials handling and storage, Materials Handling and Storage Materi...

Materials Handling and Storage Material handling is a very significant process in working place. The materials are handled in not finished, semi finished and finished states.

ANAT 260 Signature Assignment, ANAT 260 Signature Assignment Instructions: ...

ANAT 260 Signature Assignment Instructions: Address each question below as it relates to the case study given. A patient was brought to the Emergency Department by ambulance with t

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