Talk:Phenylketonuria

message: Known as Folling's Disease in Norway, not in the US or most other countries. 
Please i would like to know the reference about 'compulsive licking of others and small children ears". i have searched the web for a corroborating medical article on that and found none. thank you.82.198.0.170 (talk) 10:37, 14 March 2008 (UTC)
thread_title:  Folling's Disease 

message: Can you have this disorder and not know? Are people affected by it and seem normal? —The preceding unsigned comment was added by Energman (talk • contribs) 1st September 2006.
Quick answer: No, if you had pku and wern't treated from birth you would be severly mentally damaged from the toxic phe levels in your blood and Yes people affected (and treated from birth) are undetectable from anyone else, if someone you knew had pku you would never realise unless they chose to tell you 81.137.243.44 15:41, 27 October 2006 (UTC)
replies: text: Hang on, I just thought about what you wrote, SEEM normal? We ARE normal thank you very much! 81.137.243.44 15:44, 27 October 2006 (UTC)
thread_title:  Can you have it? 

message: who is at risk for PKU and is it possible for you to get Pku later on in your life? it may have been a recessive gene from your mother or father...?
no.. you have PKU from birth.. it doesnt develop over time or anything like that.  —Preceding unsigned comment added by 77.100.163.61 (talk) 21:50, 9 September 2007 (UTC)
thread_title:  Hi! 

message: Something strange is going on in the last sentence of the openning section.  I don't know what was meant to be there, but I'm guessing there's a code error.  My suggestion to fix this is to make a section for "discovery", but I'm not knowledgeable enough on PKU to do this.
RitRat (talk) 18:03, 7 December 2007 (UTC)
thread_title:  Asbjørn Følling 

message: It is said in the "treatment" section that phenylalanine intake should be restricted to 10 grams. 10 grams per what? Day? Month? Feketekave (talk) 18:13, 4 September 2008 (UTC)
thread_title:  Treatment 

message: I heard that people who have PKU cannot drink carbonated drinks such as Soda, Pop, Soft Drink, etc.  Is this true and if so, what is the reason?  Gibsonj338 (talk) 06:31, 12 November 2008 (UTC)
replies: text: It's because phenylalanine is used as an artificial sweetener in certain soft drinks (particularly diet drinks, where it's used instead of sugar or HFCS). Some drinks will have a warning printed on the side saying "Phenylketonurics: Contains Phenylalanine" (at least here in Australia they do, I can't speak for other countries).  —Preceding unsigned comment added by Dmartin25 (talk • contribs) 09:45, 14 April 2009 (UTC)
replies: text:  Not a phenylalanine itself, but aspartam (sweetener), which is converted to phenylalanine in the body. In russia a lot of diet drinks (and Sprite, which have both sweetener and sugar) is market as "Contains source of Phenylalanine" ("", somtimes with "" - "prohibited to use with Phenylketonuria")! `a5b (talk) 22:14, 24 November 2010 (UTC)
thread_title:  Soda, Pop, Soft Drink... 

message: For a long time, there has been a stub for compound heterozygosity, and no references. In the last few days, I have edited the page and added examples. I wanted the first example to be about phenylketonuria because it seems to be, in so many respects, the first public health model for screening. I am not familiar with allied syndromes for phenylketonuria in compound heterozygotes. Perhaps somebody could check my work on that page, and add links and information about compound heterozygosity to this page.Metzenberg (talk) 22:26, 15 April 2009 (UTC)
thread_title:  Compound heterozygosity 

message: Phenylketonuria was the first great success of genetic screening, and is of great importance in public health. For no other Mendelian disease is there such a long record of study and action. This is one of the disease models that is always presented in textbooks. Metzenberg (talk) 04:32, 19 April 2009 (UTC)
thread_title:  Promote to High Importance 

message: The only reference in the section points to an article about screening in the world, and gives nothing to back up any of the statements following the reference. The following article does for anyone that wants to add that properly: http://www.cdc.gov/mmwr/preview/mmwrhtml/00000243.htm and this source: http://www.medhelp.org/lib/pku.htm  —Preceding unsigned comment added by 199.80.142.27 (talk) 17:57, 21 May 2009 (UTC)
thread_title:  Screening and presentation references 

message: Hi
I would suggest to alter the initial definition of PKU. In fact, PKU is a deficiency/impairment in Phenylalanine Hydroxylase or in the synthesis of its cofactors (tetrahydrobiopterin and dihydrobiopterin - its metabolic precursor). 
89.180.130.196 (talk) 11:32, 26 June 2009 (UTC)
thread_title:  Altering the definition in the beggining 

message: Is it considered as a rare disease (or orphan disease)?  `a5b (talk) 22:09, 24 November 2010 (UTC)
thread_title:  rare (orphan disease)? 

message: In the incidence section, there is an assertion that:
:The mean incidence of PKU is about 1 in 15,000 births, but varies widely in different human populations
However, there's no reference/footnote for this mean incidence. In fact the incidence of "1 in 15,000 births" is listed as the mean for USA (not the world) in cite_note-26.
I can't find any reference for a global mean (though I'm not an authority, so maybe someone with background on this can), and it may be that there is no estimated mean.
Unless (and until) there is a reference for this, I propose that this sentence should change to:
:The mean incidence of PKU varies widely in different human populations
Being new to editing Wikipedia, I'd rather "talk" than go ahead and effect this change.
Timdig (talk) 10:55, 5 July 2011 (UTC)
replies: text: Worse than that, the source for the US mentions specifically classical PKU. I tried to clarify it a bit, but more would be welcome; be bold, fix it. If someone can dig up incidence rates for more populations, we can format it as a table. - 2/0 (cont.) 17:56, 5 July 2011 (UTC)
thread_title:  Incidence needs reference 

message: I propose that Hyperphenylalanemia be merged into Phenylketonuria. As this is a milder form of the same metabolic defects and there are several classification schemes, it is not clear where to make the demarcation. As hyperphenylalaninemia is a symptom of PKU, redirecting here makes sense. As there is so much overlap, keeping the conditions together will help if the classification scheme changes. I was about to begin a rewrite, and realized that discussing the metabolic basis would duplicate content present in this article. Even the infobox presented problems because of the ambiguity.Novangelis (talk) 14:47, 9 August 2011 (UTC)
replies: text: I think the Hyperphe article definitely needs a rewrite (hyperphe does not "cause" or "result in" PKU), but I am not sure that combining them is the solution.  A solid rewrite of the Hyperphe article would solve the problem.  Combining them could be confusing to someone searching for information (they hear "hyperphenylalanemia" from a doc, and a google search brings them to the PKU page - which is much more disturbing info).  Just an opinion, though.  I think the articles would be clearer with separate pages for the separate conditions.  Canada Hky (talk) 23:14, 14 August 2011 (UTC)

text: I'd be hard pressed to call the two separate disorders—same genes, but differing degrees of inactivation—and from a medical billing standpoint, the codes overlap. WP:SURPRISE seems to be the guiding force.Novangelis (talk) 15:58, 13 October 2011 (UTC)
thread_title:  Merger proposal 

message: Reading this article for the first time, I came across the compound term "PHE-restricted" in the second paragraph, and was immediately confused, having to look up the meaning of PHE.  On the disambiguation page I found that it is an abbreviation for phenylalanine and wondered why I had not seen this noted in the first paragraph of the article where I remembered reading about phenylalanine.  But then I found that was there, although in different case.  Thus:
In the first paragraph of the introduction, "Phe" is introduced as an abbreviation for phenylalanine.  In the second paragraph the adjective "PHE-restricted" is used.  Every other occurrence of the three letter abbreviation in this article uses title case (first letter capitalised, all the rest lower case). The article on phenylalanine itself states that it is "abbreviated as Phe or F", indeed "Phe" redirects to the phenylalanine article.  
The disambiguation page for "PHE", however, lists phenylalanine as one of five possible meanings of "PHE" (block caps) even though it has a separate list for "Phe" (title case) which lists only "the constellation Phoenix".
Simply from weight of use and definition, it seems likely to me that "Phe" is the correct abbreviation, not "PHE", however, I am not a subject expert and I have not found in a reasonable time a published source that confirms this.
If someone who is more in touch with chemical nomenclature documentation can confirm that I am correct, I would suggest the two changes:
* In the disambiguation page for "PHE", move the list element for phenylalanine from the first group "PHE" to the second group "Phe", and 
* In this article (Phenylketonuria): change "PHE-restricted", in the 2nd paragraph, to "Phe-restricted".
On the other hand, not being subject-educated, I don't if "PHE-restricted" is in common use with the fully capitalised abbreviation despite this using a (possibly) incorrect abbreviation of phenylalanine.
Hedles (talk) 09:35, 19 February 2013 (UTC)
replies: text: Both are correct in their contexts. In describing amino acid sequences with three letter abbreviations, "Phe" is used (e.g. ...-Phe-Ala-Glu-...) by IUPAC standard. On the other hand, when describing a single amino acid, nutritionists will characterize a diet as "PHE-restricted" or "PHE-restricted, TYR-supplemented", and abbreviate an amino acid in all caps ("PHE", "TYR"). In both cases, legibility seems to be the driving force, but sadly, I don't have a handy source discussing the abbreviations, themselves.Novangelis (talk) 15:08, 19 February 2013 (UTC)
thread_title:  Inconsistent Abbreviation for phenylalanine 

message: "inborn error"? How about replacing this word which appears at the top with "genetic". What does "inborn" mean? It's too open for interpretation 182.255.99.214 (talk) 10:00, 11 March 2015 (UTC)
replies: text: Careful not to fall into the recency illusion. The word inborn is a normal, well-established term in medicine that means congenital, genetically determined, or, in usual net effect, congenital because genetically determined. For example, the phrase inborn error of metabolism is the well-known usual phrase for that topic. Quercus solaris (talk) 15:41, 14 March 2015 (UTC)
thread_title:  "Inborn"??? pffft... 

message: If phenylalanine is an essential amino acid, and there are people who can't process it (nevermind about them getting sick), how do they survive? Wouldn't they stop being able to make new complete proteins in their bodies? Or can they survive on complete (animal) sources of protein and just hope only a small amount of the amino acids get broken up into that particular acid?  — Preceding unsigned comment added by 75.72.206.153 (talk) 23:17, 22 December 2015 (UTC)
replies: text: The problem is that they cannot get rid of the excess. Prevention of the disease is a diet low in phenylalanine, not completely deficient.David notMD (talk) 01:25, 17 February 2017 (UTC)
replies: text: Added text and citations comparing what people with and without PKU should consume. David notMD (talk) 22:57, 14 October 2017 (UTC)
thread_title:  Essential amino acid 

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thread_title:  External links modified 

message: "Treatment is with a diet low in foods that contain phenylalanine and special supplements"
was changed to:
"Treatment is with a diet low in foods that contain phenylalanine, and it requires special supplements often with additional "Tetrahydrobiopterin|medicine"."
The ref which is here: recommends a special formula / supplements. "Tetrahydrobiopterin" however " only helps some people reduce the phenylalanine in their blood"
Supplements area always recommended, this stuff is only occasionally recommended and is discussed in the body of the text. The change was undue weight. Doc James (talk · contribs · email) 01:20, 10 September 2018 (UTC)
replies: text: Agreed.  The edit to mention diet for life, rather than up to age 10, in the lead is good, but BH4 supplementation is considerably more nuanced.  Canada Hky (talk) 14:23, 11 September 2018 (UTC)
replies: text: Ref says "if instituted soon after birth and strictly followed up to the age of at least 10 years" Doc James (talk · contribs · email) 22:45, 19 January 2020 (UTC)
thread_title: Concerns with this [https://en.wikipedia.org/w/index.php?title=Phenylketonuria&type=revision&diff=858842379&oldid=858834573&diffmode=source edit]