phenylketonuria
DisabilityWikipedia
39
MENTIONS
14
EPISODES
13
PODCASTS
Search complete. 39 mentions across 14 episodes found for "phenylketonuria".
Nov 3, 2026
DivineHOST
Right.
DivineHOST
And then the rest of the newborn panel, PKU, congenital hypothyroidism, sickle cell is not really on the USPSTF list.
DivineHOST
It's just newborn screening.
DivineHOST
Right.
Tara GeorgeHOST
And I suppose that's the difference, isn't it, between a screening test where you can change everything, like almost nobody refuses to newborn blood heel prick screening for their babies, do they? Because actually what we're looking for is conditions which with changes can result in much lower levels or zero levels of disability.
Tara GeorgeHOST
Of course you would want to be tested for something like PKU.
Tara GeorgeHOST
Of course you'd want to be tested for congenital hypothyroidism because actually with some modification of that child's early years life and diet, the significant morbidity can be ameliorated.
Tara GeorgeHOST
Where actually this problem with this string thing is it's like, okay, well, it's going to tell you how long you're going to live.
Rick JacobyHOST
So that's always been in the back of my mind.
Rick JacobyHOST
When I worked in the Ben Franklin Clinic, when I was in biochemistry, I worked on PKU.
Rick JacobyHOST
Signaling cells didn't know that was a term then because diet matters, by the way.
Rick JacobyHOST
We didn't talk about diet.
Ken BerryHOST
Dr. Berry, my friend, wants to try carnivore.
Ken BerryHOST
She has a diagnosis of phenylketonuria, PKU.
Ken BerryHOST
She is considered a variant and has a score of 11.
Ken BerryHOST
Can you advise so I can continue to encourage her? Yes, so she needs to talk to her doctor.
Aziza KibibiGUEST
She also had a lot of developmental delays.
Aziza KibibiGUEST
And it turned out... that she had something called PKU, which is short for fetal catenoria, where she could not digest the amino acids and proteins.
Aziza KibibiGUEST
And it could cause brain damage, mental retardation, and other health issues.
Aziza KibibiGUEST
And eczema is one of them.
11 MINS LATER
Aziza KibibiGUEST
My son is 26.
Aziza KibibiGUEST
My daughter, who was physically disabled, she had two disorders.
Aziza KibibiGUEST
She had spinal muscular atrophy and PKU.
Aziza KibibiGUEST
She passed away in 2010.
Neisha BerryHOST
Let's get it.
Neisha BerryHOST
I have Three grandbabies with PKU, all with low protein tolerance.
Neisha BerryHOST
How can their mom and dad incorporate a PhD for them with such strict protein restrictions?
Ken BerryHOST
So you've got to work with their geneticist or with their pediatrician who has specialized in PKU.
Ken BerryHOST
They are on a specific diet, and this is one of the specific diets.
Ken BerryHOST
And as you know, there's very, very few children who have PKU, right? And so you got to work with the doctors and say, look, we're going to, we're going to eat an unprocessed diet.
Ken BerryHOST
We're going to eat meat.
Ken BerryHOST
I need you to tell me which ones are okay, which ones have the lowest counts of the amino acids you're worried about.
speaker_1HOST
Exactly.
speaker_1HOST
And the report highlights companies like Aurora Therapeutics that are currently using this platform approach to rapidly target numerous distinct mutations responsible for diseases like PKU, another metabolic disorder.
speaker_1HOST
It is slowly transforming individualized bespoke medicine from a theoretical academic exercise into a scalable commercial reality.
GorgorodHOST
But internationally, the regulatory landscape is an absolute mess of contradictions.
Genevieve HowlandGUEST
So that was a little bit strange.
Genevieve HowlandGUEST
And then she tried to do the PKU test and she just had a really hard time.
Genevieve HowlandGUEST
And she told us, she's like, this is something I always struggle with.
Genevieve HowlandGUEST
So she poked faith like five times to try to get enough blood to do the PKU test.
Genevieve HowlandGUEST
And so I was like, you know what? Just leave one of those tests and leave one of those little like lancets or whatever they're called.
Genevieve HowlandGUEST
And sure enough, Papa Natural, one shot, pokes little Faith's heel, gets all the blood needed, absolutely perfect.
SeanHOST
Did you see all the different ailments Harrison that, um, that they were trying to explain away throughout, uh, history.
SeanHOST
And of course these, like all of these wouldn't have been known way back in the day, but, um, it says the among the diseases or disabilities with symptoms that match the description of changelings in various legends are spina bifida, cystic fibrosis, PKU, progeria, down syndrome, uh, homo sister rear sister Ria Uria.
SeanHOST
Okay.
SeanHOST
Hello.
Kira DineenHOST
His team developed a personalized CRISPR-based editing therapy designed specifically around KJ's genetic variant.
Kira DineenHOST
We're exploring personalized CRISPR therapies from common diseases like cardiovascular disease to PKU, all the way to ultra-rare disorders in this conversation.
Kira DineenHOST
Dr. Musunuru, thank you so much for coming on.
Kira DineenHOST
I'm really excited to be able to talk to you.
16 MINS LATER
Kiran MusunuruGUEST
So we teamed up in the summer of 2021 and asked, "Okay, well, this thing works.
Kiran MusunuruGUEST
It can get anything into the liver, and you can make any correction you want in the liver.
Kiran MusunuruGUEST
Can we apply this to Becca's patients?" And the first disease with which we started was actually PKU, which is kind of like a middle ground.
Kiran MusunuruGUEST
It's, it's a rare disease, but it's one of the more common rare diseases.
4 more episodes mention phenylketonuria.
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