Metabolic- Glycogen Storage Disorders

Portable Peds

Today we’ll be covering Glycogen Storage Disorders, going along with this month’s theme, Metabolic Disorders. If you haven’t listened to our podcast before, each week we have a case-based discussion about a medical topic to help you study for the pediatric medicine board exam. Episodes are released every weekend, and the case is then reviewed and reinforced on social media throughout the week.

Follow the podcast on social media:

Facebook- @portablepeds (www.facebook.com/portablepeds)

Twitter- @portablepeds (www.twitter.com/portablepeds)

We'd love to hear from you via email at [e-mail]!

Also, feel free to visit our website, www.portablepeds.com, for more content.

Today’s Case:

A 2 month old male infant born at 39 weeks gestation via SVD as a home birth presents to the ED for respiratory distress. Pt is tachypneic and tachycardic with global retractions, head bobbing, and grunting. Pt was placed on BiPAP, and a chest X-ray was then obtained, which showed marked cardiomegaly. Subsequent EKG showed left ventricular hypertrophy. On further examination, pt was also noted to have hepatomegaly, macroglossia, and hypotonia. What enzyme is likely deficient in this patient?

1. Glucose-6-Phosphatase
2. Acid Alpha-Glucosidase
3. Glycogen Debranching Enzyme
4. Myophosphorylase
5. Phosphofructokinase

We would like to give an enormous thank you to Zack Goldmann for designing this podcast’s logo and accompanying artwork. You can find more of his work at www.zackgoldmann.com.

The intro and outro of this podcast is a public domain song obtained from scottholmesmusic.com.

Intro/Outro- Hotshot by Scott Holmes

Disclaimer:

This podcast is intended for healthcare professionals. The information presented is for general educational purposes only and should NOT be used as professional medical advice or for the diagnosis or treatment of medical conditions.

The views and opinions expressed do not represent the views and opinions of our employer or any affiliated institution. Expressed opinions are based on specific facts, under certain conditions, and subject to certain assumptions and should not be used or relied upon for any other purpose, including, but not limited to, the diagnosis or treatment of medical conditions or in any legal proceeding. Full terms and conditions can be found at portablepeds.com.

Thanks for listening! As always, please Rate and Review this podcast on Apple Podcasts, Facebook, or your favorite podcasting platform. Also, Subscribe to get all the latest episodes, and Share this episode with someone you think would enjoy it! Hope to see you real soon!