Metabolic- Amino Acidopathies

Portable Peds

Today we’ll be covering Amino Acidopathies and Carbohydrate 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 five-day old infant presents to the emergency department via ambulance. The mother is extremely worried because her infant has had progressively worsening sleepiness and has been feeding poorly. She was unable to wake the infant from their nap today, so EMS was called. She feels like the infant’s arms and legs are stiffer than normal. On exam, you note that the infant is difficult to arouse and is hypertonic. You are removing their diaper to complete your assessment and note a sweet odor. Which of the following has a high serum concentration in this infant leading to their current symptoms?

1. Galactose
2. Leucine
3. Tyrosine
4. Phenylalanine
5. Homocysteine

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.

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