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

How do cam plants vary from both c3 and c4 plants, How do CAM plants vary f...

How do CAM plants vary from both C 3 and C 4 plants? CAM plants open their stomata at night, while C 3 and C 4 plants open their stomata during the day.

What is gastrulation, What is gastrulation? How during gastrulation are the...

What is gastrulation? How during gastrulation are the first two germ layers formed? What are these germ layers? Gastrulation is the process by which a portion of the blastula w

Nutrition affecting the growth of microorganism, Q. Can Nutrition affecting...

Q. Can Nutrition affecting the growth of microorganism? Ans. Food is food to humans and microbes - be it carbohydrates, proteins or fats. The nutritional requirements of b

Drug effects on food intake - cause sore or painful mouth, Define Drug effe...

Define Drug effects on food intake - Cause sore or painful Mouth? This is a common side effect of chemotherapy and can significantly affect food intake. Antineoplastic drugs, u

Two adjacent cells is an effective transport pathway, Which one of the foll...

Which one of the following structures between two adjacent cells is an effective transport pathway? 1. Plasmodesmata 2. Plastoquinones 3. Endoplasmic reticulum 4. Plasm

What do you understand by carcinogens, Q. What are carcinogens? The Car...

Q. What are carcinogens? The Carcinogens are factors capable of producing neoplasias and any mutagen, a substance that can induce DNA mutation, is a potential carcinogen. Insta

Write the chain structure of d galactose and d mannose, Write the chain str...

Write the chain structure of D galactose and D mannose? The ring form of ribose is a component of ribonucleic acid (RNA). Deoxyribose, which is missing an oxygen at positi

What is immuno adsorption, It is elimination of an antigen or antibody from...

It is elimination of an antigen or antibody from a sample by the process of adsorption, to which the complimentary antigen or antibody is bound.

Is water a polar molecule or non-polar, Q. Is water a non-polar or a polar ...

Q. Is water a non-polar or a polar molecule? What is the consequence of that characteristic for the function of water as solvent? Water is made of two atoms of hydrogen attache

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