Disorders of Fatty Acid Oxidation (1 of 3)
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- Опубліковано 1 сер 2024
- This is the first of three lectures about the disorders of fatty acid oxidation, a family of genetic disorders, for trainees and medical professionals. Lecture by Philip M. Boone, MD, PhD.
References:
Overview of fatty acid oxidation: • Overview of Fatty Acid...
Fatty acid oxidation: • Fatty Acid Oxidation -... • Fatty Acid Oxidation -...
Beta-oxidation of fatty acids: • Beta Oxidation of Fatt...
Zschocke and Hoffman. Vademecum Metabolicum: Diagnosis and Treatment of Inborn Errors of Metabolism. Schattauer. 2004.
Tien, I. Disorders of fatty acid oxidation. Handbook of Clinical Neurology, Vol. 113 (3rd series). Pediatric Neurology Part III. Chapter 170. - Наука та технологія
A difficult subject which you have a gift to explain it easily. Thank you. Looking forward to the defects addressed in the other parts. Great review.
Absolutely gifted teacher. Thank you
Love this. Thank you so much!
very clear and efficient. Thank you
Incredible. Thank you!
I guess it is pretty randomly asking but do anybody know of a good website to stream newly released tv shows online ?
@Grayson Alan i watch on Flixzone. Just google for it :)
Superb
I have LCHAD. Not even 1000 in the world have it. This is a great video for me to send o people if they want to learn about it
what blood test it confirmed your diagonisis?
My son has VLCAD. Found out when he was 6 days old. Never heard of it, never knew anyone who has had it. It's all foreign, pretty much still is and he's now 2. So hard for others to understand. They always ask if he'll grow out of it...it's GENETICS! I kinda feel alone with this.
I am not a specialist in this, but you might follow the info on stem cells research in this case. I dont know about this disorder, but in the case of ALS ( see the “Laurenzo’s Oil”) there was an experimental treatment recently when they too the patient’s skin cells, converted them to stem cells, genetically edited them (engineered) to normal, unmutated state and successfully re-integrated them. If I remember right, they did it to 27 kids and after two or three years they all OK. It is not a regular procedure yet, but this is really a big hope, I think. My newborn grandson was diagnosed a week ago with VLCADD and I am quite sure that he will be fine, provided we pay attention and keep learning and observing. Its a bit easier for us as we have several geo/bio chemists, immunologists and geneticists in our family, but you can really learn a lot if you learn basics and then dig deeper in the chemistry and medical info SPECIFICS to the particular disorder your child has. It looks hard, but it really is not if you try hard.
Good luck, I really believe that there will be both drugs and stem cell solutions soon.
I started with this condition when I was fifteen years old. And now I have twenty years, and still no improvement. Is there any cure or any treatment to permanently cure this condition?
Christian Crispin what condiiton do you have
Where is 2 of 3 and 3 of part of this?
+Damir B Part 2 is up now: ua-cam.com/video/m3PUSyGP_LY/v-deo.html Part 3 coming soon!
Part 3 is up now: ua-cam.com/video/VG3PwdB343c/v-deo.html
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at number 15.35 - i thought that the brain could NOT use ketones, but needs glucose either from glucose or protein.
Plz tarslasns in hindi
I have lchad. i am 45. I was diagnosed when I was 18. To hep me, I take Lcaritor MCT Oil and Portigen (MCT powder)
what tests you diagonsed through?
sorry for asking this question. How has this condition affected you? Are you able to lead a normal life?