Disorders of Fatty Acid Oxidation (3 of 3)

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  • เผยแพร่เมื่อ 16 ต.ค. 2024
  • This is the third 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:
    Tein Handbook of Clinical Neurol 2013 Vol 113 Ch 170
    Zschocke and Hoffman. Vademecum Metabolicum: Diagnosis and Treatment of Inborn Errors of Metabolism. Schattauer. 2004.
    www.nature.com/...
    Acknowledgement:
    Dr. S. Chanprasert for presenting a lecture from which parts of this video were drawn.

ความคิดเห็น • 12

  • @shruthi2211
    @shruthi2211 2 หลายเดือนก่อน

    Great lecture, could you please do videos on Amino acid disorders and lab abnormalities

  • @Hrithmus
    @Hrithmus 8 ปีที่แล้ว +1

    My Son has MCAD since birth. He is now 15 months and doing great. We only need to worry when he's sick and doesn't keep anything down. I'm not going to lie it was super scary and spent some nights crying when my wife and i found out. For any parents out there MCAD is easy to manage if found early.

  • @chayamonsuwansumrit5515
    @chayamonsuwansumrit5515 6 ปีที่แล้ว

    This is such a great lecture! (of course I could get through ALL these 3 videos in a row) Thank you so much! :)

  • @Catherinerebekah
    @Catherinerebekah 4 หลายเดือนก่อน

    Nice lecture but just one clarification...carnitine is produced in mitochondria from lysine. So it must be taken out into cytoplasm, not the other way around

  • @madhu_1489
    @madhu_1489 ปีที่แล้ว

    my c16 and c18.1 and c.18.2 are high in cartinine profile test but there is no diagonse in whole exome sequencing!

  • @AmineTutobioch
    @AmineTutobioch 9 หลายเดือนก่อน

    What it's mean by acylcarnitine ?? it's global word , how can we measure it in laboratory

  • @christianjomar1
    @christianjomar1 8 ปีที่แล้ว

    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 for this condition or a treatment to permanently cure this condition?

    • @Zumbador
      @Zumbador 8 ปีที่แล้ว

      Cristian crispin What's your specific diagnosis?

  • @chetanchetan23
    @chetanchetan23 8 ปีที่แล้ว +1

    THANKS

  • @Zumbador
    @Zumbador 8 ปีที่แล้ว +1

    Thank you.

    • @christianjomar1
      @christianjomar1 8 ปีที่แล้ว

      ZumBaDor well my condition is fatty acid oxidation disorder