Talk:Phenylketonuria

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edit·history·watch·refresh Stock post message.svg To-do list for Phenylketonuria:

Strike through when completed:

  • Flesh out lead and article in general
  • Add section on types
  • Add section on current work (there's alot of quite advanced research going on into cures, do a google on "PKU Mice" for some interesting papers if you have time.)
  • Reference for statement "Phenylketonuria can also possibly exist in mice"
  • Find a more definitive reference about PKU mice rather than a paper which simply uses them.
  • Move comments about babies with PKU drinking breastmilk out of Maternal PKU section and up into section about PKU. Verify comment/research about breastfeeding mothers of PKU babies eating low phe diet.
  • Add definition for commonly used term phe
  • Add more images - one of Ivar Følling, a person with the disorder, and a blood sample/culture to test for the condition.
  • Review 'references' - many should be moved to external links or removed entirely.
  • Redirect PKU to this page

Folling's Disease[edit]

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)

Reference:

The Discovery of Phenylketonuria The Story of a Young Couple, Two Retarded Children, and a Scientist Pediatrics, Jan. 2000. Siegried A. Centerwall, Willard R. Centerwall

Life: The Science of Biology Purves. not sure of other info for book... This is a American High School AP Biology book, in it PKU is called phenylketnouria. Følling's Disase could easily convey the same disease though and may not confuse too much...--Randalllin 06:24, 22 December 2006 (UTC)

Can you have it?[edit]

Can you have this disorder and not know? Are people affected by it and seem normal? —The preceding unsigned comment was added by Energman (talkcontribs) 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)

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)

I have PKU and am only slightly affected by it and no you can't have PKU and not know it the doctor always tell parents a couple of weeks later. —The preceding unsigned comment was added by Cutie fo eva (talkcontribs) 11th September 2006.

only in developed countries is testing for PKU available.-Randalllin 05:12, 7 January 2007 (UTC)

Sometimes mild forms of PKU can be missed during NBS, although I understand technology is getting better and those chances are being lowered. I met a couple who had a baby girl with a mild PKU and they restested her older sisters and found one of them also had a mild PKU that had not been caught during NBS... it is mild enough that they won't need to worry about a diet until they decide to have children. If you had a severe mutation (or classic PKU) and were not diagnosed/treated you would have severe brain damage, but a mild case may not. The people I know with PKU are completely normal except for their diet.

No starchy foods?[edit]

This article says people with PKU are supposed to avoid starchy foods.... I have had PKU all my life and NEVER heard this. This article lists bread and pasta, which I eat sparingly, but I have always eaten all the corn and potatoes I want. Does anyone have an validation to this claim?

MistressOfSnape 05:54, 12 February 2007 (UTC)MistressOfSnape

Then consider yourself lucky.. theres only a "chance it can affect you, im sure its not good but its not a 100% thing that starchy food will effect it.—Preceding unsigned comment added by 208.79.179.66 (talkcontribs) 7 February 2009

Hi![edit]

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)

An important thing to remember if you have pku is that party pills containing X factor are dangerous if you suffer from this disease —Preceding unsigned comment added by 85.69.70.130 (talk) 12:19, 6 November 2007 (UTC)

Since Phenylalanine is important in the role of dopamine production (phenylalanine -> tyrosine -> L-DOPA -> dopamine) should the article mention something about what foods might replace tyrosine in PKU patient's diets. Dopamine is incredibly important to brain function. 75.73.31.54 (talk) 15:23, 15 February 2008 (UTC)

Asbjørn Følling[edit]

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)

Treatment[edit]

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)

Yeah, that is wrong. I could only assume a dose so large would total amount ever, but I have never heard of that. Typically dosing of medications is mg of drug pr lb of body weight per day. http://www.medhelp.org/lib/pku.htm mentions the following: "The goal of PKU treatment is to maintain the blood level of phenylalanine between 2 and 10 mg/dl". Hope that can help anyone clean it up. —Preceding unsigned comment added by 199.80.142.27 (talk) 18:49, 21 May 2009 (UTC)

Soda, Pop, Soft Drink...[edit]

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)

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 (talkcontribs) 09:45, 14 April 2009 (UTC)
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" ("Russian: Содержит источник фенилаланина", somtimes with "Russian: Противопоказано применение при фенилкетонурии" - "prohibited to use with Phenylketonuria")! `a5b (talk) 22:14, 24 November 2010 (UTC)

Compound heterozygosity[edit]

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)

Promote to High Importance[edit]

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)

Screening and presentation references[edit]

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)

Altering the definition in the beggining[edit]

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)

rare (orphan disease)?[edit]

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

Answering this question five years later... Yes, it's considered a "rare disease" -- the National Organization For Rare Disorders (NORD) offers some kinds of assistance for people with PKU. And the only drug for PKU, Kuvan, was approved under the Orphan Drug Act in the US. — Preceding unsigned comment added by Mmessall (talkcontribs) 15:33, 10 September 2015 (UTC)

Incidence needs reference[edit]

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)

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)

Merger proposal[edit]

The following discussion is closed. Please do not modify it. Subsequent comments should be made in a new section. A summary of the conclusions reached follows.
The result of this discussion was NOT TO MERGE per WP:SURPRISE. Novangelis (talk) 15:58, 13 October 2011 (UTC)

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)

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)

I agree that it shouldn't be merged so as to prevent alarming people, but also that though the two may be related they are separate disorders. — Preceding unsigned comment added by Voxweps (talkcontribs) 14:57, 13 October 2011 (UTC)

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)

The above discussion is closed. Please do not modify it. Subsequent comments should be made in a new section.


Inconsistent Abbreviation for phenylalanine[edit]

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)

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"[1], 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)

"Inborn"??? pffft...[edit]

"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)

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)

Phenylalanine Hydrosylase Deficiency[edit]

The American College of Medical Genetics and Genomics has issued updated guidelines for diagnosis and treatment for which recommend using the name "Phenylalanine Hydrosylase Deficiency" to refer to the whole spectrum from classic PKU to Hyperphenylalaninemia.

https://www.acmg.net/docs/Phenylalanine_Hydrosylase_Deficiency_Practice_Guideline_AOP_Jan_2013.pdf

"PAH deficiency most accurately describes the spectrum of clinical phenotypes ranging from PKU to hyperphenylalaninemia and thus will be used throughout this guideline." "This guideline recommends a unifying nomenclature and therefore refers to the spectrum of PAH deficiency, not specifically relying on the blood PHE level, although we recognize that the most severe form is still likely to be referred to as “classical PKU” in many settings."

I agree that this is a helpful change in terminology (I know of some patients whose diagnosis has changed from "PKU" to "hyperphe" and back as their levels/treatment have changed. Changing diagnosis rather than changing the estimated severity with the same diagnosis seems illogical.)

I think it would be a good idea for Wikipedia to follow this same convention, basically renaming the "PKU" article "PAH deficiency" and importing the (little) non-redundant information from the current "hyperphenylalaninemia" page into it. I can see from the talk page that something like this has been considered and rejected before, but given the revised guidelines from an influential medical association, I think we should re-think that. I don't know how to go about making a change like that, though...

Essential amino acid[edit]

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)

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)
Added text and citations comparing what people with and without PKU should consume. David notMD (talk) 22:57, 14 October 2017 (UTC)

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