Metabolic- Glycogen Storage Disorders


Manage episode 286737575 series 2851469
A sorozat szerzője: Ryan Flaherty, DO, Samantha DeMarsh, DO, and Elizabeth Grogan, MD, Ryan Flaherty, DO, Samantha DeMarsh, Elizabeth Grogan, and MD, akit a Player FM és a Player FM-közösség fedezett fel. A szerzői jogok tulajdonosa a kiadó, nem a Player FM, és a hangfájlt a kiadó osztja meg közvetlenül a saját szerveréről. A frissítések nyomonkövetéséhez koppints a Feliratkozás gombra, vagy másold be a feed URL-t egy másik podcast-appra.

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.

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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

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