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Phenylketonuria

phenylketonuria

(Science: disease) congenital absence of phenylalanine hydroxylase (an enzyme that converts phenylalanine into tyrosine). Phenylalanine accumulates in blood and seriously impairs early neuronal development. The defect can be controlled by diet and is not serious if treated in this way.

incidence: highest in Caucasians.

Acronym: PKU

Origin: Gr. Ouron = urine A genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency.


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About non PKU

After reading your question, I made some search in the internet. The symptoms seem to be realeted to phenylketonuria, but you should make your son visit a doctor for a better diagnosis, of course. The test is known as Guthrie test and has been used since mid-1960s in many ...

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by DRT23
Sun Feb 27, 2011 1:16 pm
 
Forum: Genetics
Topic: About non PKU
Replies: 1
Views: 1205

Re: Natural selection is proven wrong

... Tube Defects * Neurofibromatosis * Niemann-Pick Disease * Noonan Syndrome * Optic Atrophy * Osteogenesis Imperfecta * Peutz-Jeghers Syndrome * Phenylketonuria (PKU) * Polycystic Kidney Disease * Prader-Willi Syndrome * Progeria * Pseudoxanthoma Elasticum * Ptosis * Rentinitis Pigmentosa * Scheie ...

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by gamila
Thu Apr 23, 2009 4:16 am
 
Forum: Evolution
Topic: Natural selection is proven wrong
Replies: 247
Views: 620104

Articles on ...

... articles on human genetic disorders? So far I've got one from science direct, but I need 4 more references. Anything in the areas of Tay Sachs, Phenylketonuria, down syndrom, sickle cell anemia, and cystic fibrosis is what I'm looking for me. Short articles or anything on genetic disorders are ...

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by Jacket
Wed Apr 15, 2009 11:30 pm
 
Forum: General Discussion
Topic: Articles on ...
Replies: 2
Views: 998

Biology Hangman Game

phenylketonuria ............? Correct! :D http://en.wikipedia.org/wiki/Phenylketonuria has any information for those that need it. :) raghda, you choose the next word.

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by Draco
Sun Nov 11, 2007 10:56 am
 
Forum: General Discussion
Topic: Biology Hangman Game
Replies: 582
Views: 177975

Biology Hangman Game

phenylketonuria ............?

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by raghda
Fri Nov 09, 2007 11:56 pm
 
Forum: General Discussion
Topic: Biology Hangman Game
Replies: 582
Views: 177975
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