What’s in a name? A closer look at changing the name of PKU

Changing the name of PKU, PKU name change, from PKU to PAH deficiency

Recently, the American College of Medical Genetics and Genomics released new guidelines in support of lifelong treatment for PKU. Among other recommendations, the organization also suggested the name of the disease be changed from PKU, short for phenylketonuria, to phenylalanine hydroxylase deficiency, or PAH deficiency.

The ACMG acknowledges that there are several ways to describe PKU severity and specifically calls-out at least two naming conventions that are commonly used:

  1. PKU, the more severe diagnosis where untreated patients have blood phe levels greater than 1,200 μmol/l or 20 mg/dl and,
  2. hyperphenylalaninemia, which represents a milder diagnosis where untreated patients are still above what’s considered normal but less than 1,200 μmol/l or 20 mg/dl.

After the National Institutes of Health introduced the term hyperphenylalaninemia in 2000, we started seeing an increasing number of clinicians, patients and families of patients refer to the first, more severe category as classical PKU. The new name PAH deficiency, the ACMG proposes, would eliminate the practice of using the blood phe level as the standard of classification by representing all of these variations.

The communications and marketing professional in me knows that over the life of a product or business, there may be many reasons the decision is made to change a brand name including mergers/acquisitions, changing markets, new leadership, and to even eliminate a negative reputation.

In the case of PKU and the ACMG’s recommended name change, the decision was made because PAH deficiency more accurately describes what the authors refer to as the “spectrum of severity.” But, it’s worth noting that descriptive names can also have their own subset of issues. Brand names that are too literal can become forgetful or inaccurate over time. Names that are too complex or long can impact a person’s ability to pronounce or remember it.

What’s more, we also know that the use of medical jargon can make it difficult for individuals to absorb and process health-related information. So what will the impact be when folks within the PKU community try to make the transition to phenylalanine hydroxylase deficiency? When phenylketonuria was introduced into the vernacular in 1934, it likely created its own source of confusion in the patient community. Yet, there is something to be said for brand recognition. Overtime, the brand familiarity of PKU has become stronger within the community and it’s likely that many PKU patients have a strong association with the term PKU, and to some extent, identify themselves with the now-outdated term.

It will take time for PAH deficiency to be wholly embraced. Even I have started to wonder, “What does this name change do to the title of my blog?” I’m not quite ready to makeover PKU Parlor, but I can acknowledge that with the name change there could be some benefits. For example, wrapping-up the varying levels of PKU severity under one umbrella may go a long way for securing universal medical food and formula coverage. Lawmakers and other decision makers will be less inclined to offer coverage to a severe group of PKU patients while simultaneously denying or restricting access to those with milder cases.

So as a member of the PKU PAH deficiency community, how do you feel about the name change? Are you reluctant to make the transition? Or do you embrace the new name and find yourself excited for the fresh start? I’d like to hear from you and what your reaction was to the suggested name change. Also, if you ever thought of alternative names for PKU, be sure to share them in the comments field below.



Filed under Advocacy, Research

19 responses to “What’s in a name? A closer look at changing the name of PKU

  1. A. Beem

    I agree with the change. The benefits would be considerable.

  2. Kaitlyn U

    I agree it’s better to keep us under one umbrella of coverage. I support the name change.

  3. Jennifer

    Very insightful, I have wondered about the name change, also. Regardless of the change, I know how I define PKU for myself. There is need for a standardization of benefits for patients to have access to treatment with a multidisciplinary team approach and the treatment should be individualized and engage the patient in the decision making process. I think it is going to take more than a name change to adopt and implement sound policies that guarantee these much needed and warranted patient protections. There is a lot of work to be done in educating legislators and regulators on PKU and medical food, I do not know if this is going to ad more confusion or help in taking progressive steps for change. History has shown – with decades of denials and reimbursement challenges – that the government is very slow to change.

    • I agree, Jennifer. Change can be very slow, especially when it comes to changing legislation. I think the success of a name change will depend largely on whether it’s embraced by the entire PKU community. Time will tell!


  4. Margie

    I like it. I often describe PKU as an IEM (inborn error of metabolism) because it is easier to understand, more descriptive, and less dramatic than phenylketonuria or “birth defect.” The new name more clearly incorporates the meaning. The PKU Parlor should always be the PKU Parlor though!!! It’s a darling name. “PAH deficient” could be shortened PAH D or potty!

  5. Paul

    Hi Nicole;

    Nice you wrote this blog and started the discussion on the ‘rebranding’. First off, in a lot of publications it has always been referenced to as PAH deficiency (as well), even in the earliest publications. So in my opinion it’s nothing new, and then I don’t mean how you described it or what you wrote in your blog but the guidelines paper. Just like you said from your experiences you shouldn’t change a brand name without good cause. I’ don’t know how it’s in the US but in Europe policy makers do not know a lot about IEM but they know about PKU as they link it to the NBS as it was PKU that introduced NBS (indirectly of course). That reference will be gone when renaming it. Not to mention all the brochures from government on NBS, of patient organizations and let’s not forget all the textbooks used by medical students. And PKU is easier to remember (not the full name of course) than PAH deficiency, but that might just be the opinion of an older PKU.

    I started to read the article on the guidelines and so far I am not impressed. There is nothing new in there and furthermore in some cases even not clearly defined (numbers are lacking). In Europe we are working on guidelines as well, for the whole of Europe. Only with two big differences, one: the patients get a voice in the quality of the standards of care. We get a say in what is good enough, not just the professionals. If you like to read it, here you can find the publication http://www.ojrd.com/content/8/1/191. Second: There is consensus between professionals from various countries, so the guidelines aren’t mere words but it is also supported by the field. Making actually implementing the guidelines much easier.

    • Hi Paul. Thank you for adding a valuable perspective! It is interesting to hear about PKU developments in Europe. I’ll have a closer look at the publication link you included. I love to hear you say that patients are getting a chance to weigh-in on decisions being made about the treatment of PKU!

      I think the first time I heard the term PAH deficiency was when Kuvan was first out on the market and clinicians and pharmaceutical reps were all using PAH deficiency to describe why it is that Kuvan worked in some patients.

      I also think you bring-up a great point about age and how that factor influences a PKU patient’s willingness to embrace the name change. Based on response to this blog post alone, I’m finding that those new to PKU are having the easiest time accepting the recommended change.


  6. Lucy Lee

    I don’t care for it. If is not broke don’t fix it. Physicians know it as PKU plus we in the PKU community will have to explain that as well. It is hard enough to explain PKU.

  7. billie kay peeler

    Nope….don’t like the name change at all…..i have pku and been sayin it for 37yrs and will continue to say pku.

  8. Katie Maguire

    The only benefit I could possibly see is for coverage for food and formula… Whether the name changes or not, insurance companies will continue to try and refuse coverage…
    That being said, I DO NOT like the idea of the name being changed. How many times have you told someone about PKU and they actually knew what you were talking about? However, when you start with the whole newborn screening test, suddenly they know and remember learning about PKU in high school biology. If the name changed, we can forget about anyone making those connections having heard of it before… I’m NOT in favor of the name changing… I will always refer to my metabolic disorder, diagnosed 30 years ago, as PKU!

    • Jennifer

      Changing the name isn’t going to improve patient quality of life. Changing the policies should be the focus to assure equal access to treatment. What good are treatment guidelines under a new name if patients do not even have access to treatment in the first place.

    • Thanks for commenting, Katie! You and Paul seem to be on the same page: if we don’t refer to it as PKU, then we’ll no longer have that easy association with newborn screening.


  9. Julie PKUKID3

    I do not like, or agree with, the name change. I agree with Lucy Lee that it is hard enough explaining PKU and I also agree with Katie Maguire in that the insurance companies will find a way around a new name or an old name if they want to. I also think it is important to keep the separation because with new technology coming out, like Kuvan, you need to know your level of severity so you know your chances of your body’s receptiveness versus rejection. Also, as a kid growing up learning about PKU, I would see a kid who had “PKU” but was eating a PB&J sandwich; which I knew I could never have. It made a lot more sense to me after it was explained that I had Classical PKU and they did not. Meaning mine was more severe even though that child still HAD PKU.
    p.s. My license plate says PKUKID on it and I don’t wanna change it 😉

    • Excellent point, Julie. It didn’t occur to me that having language that describes the levels of severity would be helpful. It certainly is, especially when (as you pointed out) there are treatments like Kuvan that work differently for mild and severe cases.


      P.S. Definitely don’t change your plate – that’s so cool!! 🙂

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