Phenylketonuria | Genetics, Signs & Symptoms, Treatment

Lesson on phenylketonuria. Phenylketonuria (PKU) is an inherited disorder of phenylalanine metabolism, resulting in insufficient enzymatic processing of phenylalanine. As a result, phenylalanine levels increase, leading to increased production of metabolites that cause damage to developing brains that cause developmental delay. Therefore, diagnosing phenylketonuria is key, which determines who needs treatment.

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JJ

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**MEDICAL DISCLAIMER**: JJ Medicine does not provide medical advice, and the information available on this channel does not offer a diagnosis or advice regarding treatment. Information presented in these lessons is for educational purposes ONLY, and information presented here is not to be used as an alternative to a healthcare professional’s diagnosis and treatment of any person/animal.

Only a physician or other licensed healthcare professional are able to determine the requirement for medical assistance to be given to a patient. Please seek the advice of your physician or other licensed healthcare provider if you have any questions regarding a medical condition.

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JJ

[pharmaNutshell.]

Thank you for the amazingly detailed video🌹🍀

[AB-pzck]

My daughter was diagnosed with at 12 years old. So many years of denying from doctors there was something wrong. 🤬 Until last year the mayo clinic discovered pku through genetic testing. She is on meds for pku.

[jenniferalmon]

Thank you for such amazing videos that cover difficult subjects in just a few slides. Excellent job!!!

[olran]

very helpful and just what I needed for my research paper

[python.]

Your videos have proved helpful in learning genetic diseases, our professor gave us basic school knowledge on genetics and left the main part for us 🙄 You're a life saver here, thanks doc!

[postingeverything]

Your videos are definitely good, but these vocabs that is like double the length of my password is killing me💀

[emmanjuniourrarogal]

It's a great time listening to your lecture doctor. I'd like to know if this metabolic enzyme has impact on older people. I ingested coffee with phenylalanine how's that doc would it affect my nerves or cells ?I got hypokalemia and anaemia.

[tangysoul]

Thanks a lot sir...you cleared my doubts

[almustafaaraz]

Can you provide me with the PowerPoint file, I’d like to use it in my presentation in my class.

[laurathompson]

23 and Me brought me here as it turns out I am a carrier of the one of the genes . Never heard of this condition.