Inborn Errors of Metabolism made SUPER LOGICAL!!!! PART I

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PKU? MSUD? OTC deficiency? IEMs CONFUSE everyone!!! But watch this video and fully UNDERSTAND them forever!! We go over the BASICS of IEMs and how they are caused by problems in enzymatic pathways- giving EXAMPLES at every step. What is an IEM?? What causes them? How are they inherited? How common are they?
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Dr. Tala is a board-certified neonatologist and has worked in busy level III and IV units for the past 15 years. She has won multiple teaching awards throughout her time as a neonatologist.
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References:
Fanaroff and Martin Neonatal-Perinatal Medicine
Fatih Ezgu, Chapter Seven - Inborn Errors of Metabolism,
Editor(s): Gregory S. Makowski, Advances in Clinical Chemistry, Elsevier, Volume 73, 2016, Pages 195-250, ISSN 0065-2423, ISBN 9780128046906
Ferreira CR, Rahman S, Keller M, Zschocke J; ICIMD Advisory Group. An international classification of inherited metabolic disorders (ICIMD). J Inherit Metab Dis. 2021 Jan;44(1):164-177. doi: 10.1002/jimd.12348. PMID: 33340416; PMCID: PMC9021760
www.otsuka.co.jp/en/nutraceut...
labpedia.net/lipids-total-lip...
www.otsuka.co.jp/en/nutraceut...
Häggström, Mikael (2014). "Medical gallery of Mikael Häggström 2014". WikiJournal of Medicine 1 (2). DOI:10.15347/wjm/2014.008. ISSN 2002-4436.
commons.wikimedia.org/wiki/Fi...
faculty.cc.gatech.edu/~turk/b...
www.newbornscreening.info/vlc...
Datta AK, Ghosh T, Nayak K, Ghosh M. Menkes kinky hair disease: A case report. Cases J. 1, 1, 158. 2008. doi:10.1186/1757-1626-1-158. PMID 18801184
Uploaded a work by Sydney S. Gellis and Murray Feingold from Atlas of mental retardation syndromes; visual diagnosis of facies and physical findings with UploadWizard
www.frontiersin.org/files/Art...
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America - Scientific Figure on ResearchGate. Available from: www.researchgate.net/figure/C... [accessed 20 Aug, 2023]
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**TIMESTAMPS**
00:25 What is an IEM?
15:11 How common are IEMs?
17:43 How are IEMs inherited?
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*Disclaimer*: This video is intended for educational purposes only and while
we strive to give the most accurate information, errors may occur. Subsequently,
this video should not be a replacement for medical advice.

Опубликовано:

1 авг 2024

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Комментарии : 43

@sarbarigupta2856 10 месяцев назад

Hi . Really appreciate your energy and dedication in making such complex matters simpler for the rest of us. Kudos to your hard work. Really look forward to all your “talks”.

@TalaTalksNICU 10 месяцев назад

Hello! Thank you so much for watching the videos and for taking the time to comment. Literally any energy we have is from lovely words like yours- so thank you thank you

@intanhartandy4430 10 месяцев назад

Thank you Tala and Team for another great video! Sending love from Indonesia ❤

@TalaTalksNICU 10 месяцев назад

So happy you're watching from Indonesia! Thanks so much for your comment and for being here :)

@thenicudoc 10 месяцев назад

Gat stuff Tala. As always, impeccable. Loved the Fanaroff, "the Bible of Neonatology " 😅.

@TalaTalksNICU 10 месяцев назад

Hahahah! It is the Bible!!! Heavy stuff this IEM!!

@reesejachetta289 10 месяцев назад

Hi Tala & Team! Thank you for all your hard work on these videos! *If you're looking for more topics* I'd love to see a video on hemangiomas, pulmonary hemorrhage, osteopenia, NOWS/NAS, TORCH, VACTERL, or myelomeningocele! You are amazing! Thank you again! -Reese from Denver, CO

@TalaTalksNICU 10 месяцев назад

Oh these suggestions are amazing!! Thanks so much for sending such a well thought out comment! We didn’t have a couple down- but we are planning on a TORCH one soon/ and I’ll add others to the list. Thank YOU so much!

@madanat1000 10 месяцев назад

Well explained . Thank you

@TalaTalksNICU 10 месяцев назад

So glad you think so- thank you for taking the time to comment :)

@NahlaMohammed-wi8yg Месяц назад

Excellent

@TalaTalksNICU Месяц назад

Thank you so much!

@PROFKASPER 9 месяцев назад

Thank you very much from Egypt 💐

@TalaTalksNICU 9 месяцев назад

HI! So glad you're still watching from Egypt- thanks for being here :)

@mohammadalqudah3603 7 месяцев назад

Thank you very much , i am from jordan , i always watch yourv valuable videos

@TalaTalksNICU 7 месяцев назад

Shukran! So glad you’re here :)

@Hope20249 8 месяцев назад

Thank you, very helpful

@TalaTalksNICU 8 месяцев назад

So happy it was helpful- thank you so much for writing to us!

@lizajamil4061 6 месяцев назад

Hey Tala and team! The last time I was here was when I was giving my mid-residency exams and I remember asking for a video on this topic. I'm back here as I have exams coming up again and I was so trilled to see this video, even telling my sister how I love how you teach so well and that you made this video! You're my favorite teacher! God bless you all. OX

@TalaTalksNICU 6 месяцев назад

Oh yay!!!!! I’m so happy you came back- and yes we finally got around to IEM! I remember you suggesting them- convincingly! How is residency going? Have we convinced you to consider NICU?!!! Good luck in your exams- and thanks again!

@lizajamil4061 6 месяцев назад

@@TalaTalksNICU I just got done with my residency! preparing to become a consultant. It's going be very tough one. I really like intensive care and I like you so much! and I'm so sure if I were in your team I would be preparing to become a neonatologist!

@TalaTalksNICU 6 месяцев назад

Congratulations!!!!! You should def do NICU! No regrets seriously! Great job satisfaction, great people, great work life balance. Best place in medicine (I mean may be slightly biased!)

@lindsey419 10 месяцев назад

Hi Tala and team! Love your videos! Can you do a series or video on micropreemies / ELBW infants? :) they are so complex and a whole subset of the population.

@TalaTalksNICU 10 месяцев назад

Hi Lindsey! We SO need to do this- so much of what we do and really deserves its own set of videos. Thanks for the great suggestion!

@drazam325 10 месяцев назад

Great 👍

@TalaTalksNICU 10 месяцев назад

Thank you! second one will be out soon :)

@mohammedmaheer4740 6 месяцев назад

Excellent × 3

@TalaTalksNICU 6 месяцев назад

Thank you so much! Love your comments :)

@raeesansari770 Месяц назад

Nice explain

@TalaTalksNICU 19 дней назад

So glad you thought so! Thank you!

@user-wj8ec7mf1c 10 месяцев назад

Dr tala i have asilly question why you choose neonatology from other subespicialities in pediatrics

@TalaTalksNICU 10 месяцев назад

Such a GREAT question! Never though I'd end in this specialty but realised how much I enjoyed my rotations. All the science, physiology, procedures, research and BABIES! Honestly, at this point, I don' understand how anyone could do anything else!!

@user-xb5ik3rg7y 10 месяцев назад

genetic metabolic disorders can be quite challenging and overwhelming to deal with.I still have many questions and concerns even after listening to information about genetic metabolic disorders

@TalaTalksNICU 10 месяцев назад

Completely agree with you! So many questions- and honestly most of them are best answered by a specialist! We just keep trying to learn!

@havvasimsek6419 10 месяцев назад

❤

@TalaTalksNICU 10 месяцев назад

Thank you Havva!

@Nomad-go3gc 10 месяцев назад

first!

@TalaTalksNICU 10 месяцев назад

Yes!

@docvaruna 10 месяцев назад

I always skip IEM. it's confusing. After listening to this, eagerly waits for the 2nd part. IEM Protein defects you made ridiculously simple.

@TalaTalksNICU 10 месяцев назад

I’m with you!!! So many people enzymes and pathways and long names! It wasn’t until I started practicing that I kinda learnt what I actually need to know! Thank you so much for taking the time to watch it and to write in :)