Phenylketonuria - causes, symptoms, diagnosis, treatment, pathology

[@devillede]

I was diagnosed with PKU as a baby! Luckily, I don’t have it, but I am a carrier :)

[@adrianbogdy]

Hi there. My newborn child was found with high level of phenylalanine. We wait second test under some kind of torture. Is that possible to be just a carrier but not having symptoms of PKU ?

[@McFaceRollSC2]

@@adrianbogdy There are 4 possibilities when a kid is born. 25% chance of having no PKU genes, meaning healthy. 50% chance of having 1 PKU gene, meaning you become a healthy carrier, meaning you can pass it on. And 25 % chance of having 2 PKU genes. Meaning you are then sick with PKU. Having high disease :/

[@lauramccappin3316]

I was also diagnosed with mild pku at birth on a free diet but also a carrier 😩

[@arshidafarooq9448]

We have problems of. This type can you help us

[@irene9486]

@@adrianbogdy hey, so how did the second test go? What were the results

[@easymedicinebytmd8247]

Spoke today about this disease in genetics! It is awesome that we screen this in our days!

[@assyrianbull]

Health is wealth , really! Seeing such videos make me realise that being blessed with a healthy body is everything one needs in life.

[@XReal0101]

I have pku my body is perfectly healthy. Lol it’s controlled by a diet and formula.

[@JaspreetKaur-px6xe]

Wealth is health

[@Cahila3617]

It's so nice to be able to learn about it as it is now tested early as my aunt had it and was to far from treatment when diagnosed and my uncle was one when he was diagnosed it's a cruel genetic disorder as I have watched it do damage on my aunt she lived longer than we expected and my uncle is still going strong with treatment

[@kashfalam6139]

I may be suffering from PKU... slow mind developing or two years slow. May Almighty bless me.

[@owensaenz1065]

I appreciate this video so much. 1st aid and other sources couldn't explain this as well as this video.

[@osmosis]

Thanks, Owen!

[@dazaisabertooth1736]

Adequately informative. Thanks 😊

[@brianbinns9543]

This video is very impressive and helpful! Thank you for creating and sharing. One note: "Phenylalanine" is spelled wrong at 4:00 (middle of screen).

[@grahammckain4492]

sorry but nobody cares

[@NC-mv1rw]

Exactly the video I needed

[@beautifulr7160]

I have a brother & sister both with PKU and they were not diagnosed early , since there was no screening at that time.. Now they are in very bad condition.. Unfortunately till now there's no screening available here ...

[@giorgijimsheleishvili1349]

how old they were when they diagnosed this?

[@beautifulr7160]

@@giorgijimsheleishvili1349 they are actually in very bad condition ( one of them is 39y & the other one is 34y ) ,, they had been diagnosed late , one of them were over 5y at time of diagnosis & other one I think was 1 year or older when diagnosed...so no benifit of treatment nor restriction of food.. that time no one know & till now there's no screening here for PKU ...

[@keewee23]

@@beautifulr7160 what symptoms do they have, thanks

[@beautifulr7160]

@@keewee23 actually severe mental retardation, which grew over years till they become handicapped ( one of them is in bed now ) because she was just hitting her head against everything & crying non stop so she lost her eyesight. The other one is same if he got a chance he just cry hit his head against wall , ground , door ... now he also started to lose his eyesight.. Their conditions are really very bad ..

[@a12i9]

​@@beautifulr7160where do you live that you didn't have the screening?

[@pennya5264]

My dad has this! And I carry it

[@diwu4125]

Thank you!A great video!

[@osmosis]

Most welcome! 😊 😊 😊

[@ybn6264]

شكرا لكم على هذه المعلومات القيمة ❤️

[@osmosis]

على الرحب والسعة!

[@shannapelton9019]

PKU runs in my family… my closest cousins has it, he’d have to drink this drink 3 times a day… as a kid we never really knew much. As I get older and have kids I find myself obsessed with information on this, and Maple Syrup urine Disease

[@youmnasakhawat1614]

I wanted to know where you got the data from? what book or article?

[@lovely__shadow9305]

This was just mentioned in my textbook as something hospital’s test for, but I got sidetracked and ended up here. This always happens when I study....

[@seekerofknowledge4533]

really thankful to u ma'am

[@zainabb.2792]

Thank you

[@salmansedic6431]

I'm doing a research about the products that contains substances that can trigger this genetic disorder. I'm struggling.

[@hrishikeshakanade4781]

Have your completed your reasearch now? (As comment was 3 yrs ago )🙏

[@jakobjusinski]

Perfect video, thanks!

[@osmosis]

You're welcome! 🥰

[@aroojkhalil4770]

Love your channel

[@kasspriscilla5183]

I have classical PKU the worst type of PKU I'm a pioneer I'm 53 years old in 1972 I was taken off treatment buy doctors it was a Norm at that time you are 5 and 1/2 for 6 they thought that that's as far as you needed to go I've been off diet since the mid-1990s I'm back on diet I've had good levels but I do cheat every now and then I can't afford the PKU food because it's very expensive I'm also disabled because when the doctor took me off treatments I'm on Medicare and Medicaid I developed a learning disability but I'm not retarded I live alone and I'm doing okay life is still bit of challenging for me and I have a case manager that helps me on the side because of having the learning disabilities so you younger adults you're blessed stay on your diet and you won't have a problem that I have I have to keep fighting to stay on my diet because of all the years I was taken off diet so you people with PKU out there keep going God bless

[@Evan-10000]

I have PKU although I’m not quite an adult yet. I have never realised that PKU could cause so much trouble but luckily for me, mine is very mild. I sincerely hope you are doing well.

[@dragz583]

Same for me

[@clinicalworld5077]

Loved it...Osmosis is❤❤

[@afnan4593]

Thanks

[@dr.fakhar-ul-islam2297]

Excellent

[@rifana4676]

How can i get kuvan medicine in india?

[@hoangtrungkien]

Thank you very much

[@ramla7295]

Osmosis we need pharmacolgy plz

[@MrYousuf95]

They already have it

[@anonymouspupp3410]

just comment

[@MrYousuf95]

Awais Khan hu ? What ?

[@ramla7295]

Ididnt se any pharmacolgy

[@MrYousuf95]

@@ramla7295 u have to get the membership lol. They don't upload everything here on KZbin

[@minei9524]

0:02 0:17 0:21 0:25 0:28 0:36 0:45 0:55 1:02

[@alexandrajohnson8155]

I have PKU and it can be challenging but I have been on a restricted diet since I was born, I am 28 now and I am use to the diet. For pregnant women, the diet can be more strict to ensure nothing happens to baby (I am expecting and I already have a healthy beautiful girl with no PKU). You cannot develop PKU as an adult, you are born with it. I read it is common in Caucasians and Native Americans.

[@jacquelinescourageousworld3848]

@ alexandrajon I love all the information they give on the diseases. I am so sorry about PKU and I hope doctors will find successful treatments in the next 5 to 6 months. Keep your head up and never stop fighting and praying and smiling. ❤️💜❤️💜❤️💜❤️💜 💜❤️💜❤️💜❤️💜❤️

[@MrTrashcan1]

How do you get tyrosine, tryptophan, and the other amino acids your body needs?

[@Ib90]

Can African and African American get it?

[@olaniyisamuel5188]

Hi

[@a12i9]

​@@MrTrashcan1that's all in the formula she mentioned

[@mykhailomarchenko1101]

Thanx

[@sinopino2812]

So..... Could IBD be due to phenylketonuria

[@mcbaaby6281]

does it say how it is diagnosed because i am doing a research project

[@c6sano]

Mcbaaby It gets diagnosed at around 24 hours after birth. Every child gets screened for PKU. The docs take blood from the heel of the baby and checks the Phe and Tyrosine levels. If the Phe levels are high and the Tyrosine levels are low, additional testing is done to properly diagnose the baby with PKU. If diagnosed, the baby goes on a low to no Phe diet formula.

[@mysticm9841]

@Toby Mcguire if you had it you would of being diagnosed as a baby ..

[@terriem3922]

They didn't start screening for PKU until 1961.

[@ri9486]

Does the phenylalanine get excreted by urine?

[@alexandrajohnson8155]

It wears off over time but must be controlled with diet.

[@aasemahsan]

Autosomal recessive disorder Tyrosine hydroxylase deficiency

[@nataniasorara6551]

Can u add subtitle in bahasa (indonesia) so i can understand the video better ?

[@Richard_FitPku]

Yep I have this pku

[@4..Oli..4]

i have pku its so hardd!!!!!!!

[@dragz583]

Omg what’s ur user me too

[@lil_drop_0749]

Ngl I just go to the comments when I’m watching these videos in class

[@Afaqurrahman506]

Great

[@tripledeez9785]

Anyone else here from Bio class😂

[@That_NurseD]

Lol I'm here from nurisng school actually 😂

[@maddie-sy4bx]

Anyone else have pku?

[@alexandrajohnson8155]

I do.

[@abdulmjedabdu.3193]

great -_-

[@nuria4470]

When your name is NURIA 😩😩💅💅

[@redstonebow7993]

oh god..... Charlie gordon :(

[@rileyhouston7761]

Would you not refer to a dietitian?

[@vickybarb8799]

Riley Houston not dietitian but usually a nutritionist who specializes in metabolic disorders like PKU at least that’s what I have

[@rileyhouston7761]

But a dietitian would be more qualified towards metabolic disorders than a nutritionist, as dietitians are trained for clinical nutrition (such as this) they can do a lot more than a nutritionist...

[@uilliam6926]

@@rileyhouston7761 Speaking as a PKU patient from the UK, we have both a Dietitian and Nutritionist who look after us. This is to assure we are managing our diets well and that the food we are eating is acceptable for our Phenylalanine tolerance. You need to remember the diet and food is very strict, so it must be managed well which is easier said than done especially in the late teen/adult phase when you may want to experiment with food more, so it is necessary to have these resources readily available to manage PKU as best as possible, I hope this helps.

[@alexandrajohnson8155]

Ive seen the same dietician for it since I was born

[@BurnsErin-e7c]

14469 Marian Squares

[@mustafaali3333-q1m]

😐

[@livebiochemistry]

👍👍

[@kasspriscilla9350]

Excuse me but there's more symptoms in this video is talking about I'm a pioneer and I was taking off die at 1972 they didn't put us on until the midnight 1990s okay the thing is I've got learning disabilities I am not retarded I also get neurological symptoms because of the damage that was done by doctors to my brain when they took me off diet they are not giving all the symptoms in this video and I think this video sucks there's better videos than this

[@osmosis]

Thanks for the honest feedback, Priscilla! I will be sure to pass this along to my colleagues on the Content Team so they can check the details with our Chief Medical Officer. 😊

[@jhoseppastor648]

peyton

[@kasspriscilla9350]

And it cost a fortune

[@isaac8141]

i have no clue what you are talking about :)

[@SL-my4fg]

👏

[@milk-4026]

:(

[@mustafaali3333-q1m]

|:

[@wizardatmath]

Not a word about vitamins....

[@quantumcomata105]

Meow

[@aaronwachter3605]

I hate this class

[@dragz583]

Bruh what

[@noorhan8621]

Thank you