Peds I- Inborn Errors of Metabolism and Endocrinology
EM Clerkship
Zack Olson, MD ; Mike Estephan, MD ; Maddie Watts, MD
4.9 • 816 Ratings
🗓️ 11 February 2018
⏱️ 8 minutes
🧾️ Download transcript
Summary
Don’t be overwhelmed knowing/memorizing each inborn error of metabolism. The basic approach is actually quite easy!!!
Inborn Errors of Metabolism (IEM)
* Almost always result in one of the following three clinical abnormalities* Buildup of toxins* Ammonia* To test for this, obtain an ammonia level* Buildup of acids* Methylmalonic acidemia* To test for this, obtain electrolyte panel and look for decrease CO2* Shortage of glucose* Glycogen storage disorders* To test for this, obtain a blood glucose level
Congenital Adrenal Hyperplasia (CAH)
* Decreased 21-hydroxylase enzyme* Physiologic abnormalities* Decreased aldosterone* Low sodium (hyponatremia)* High potassium (hyperkalemia)* Decreased cortisol* Low glucose level* Hyperpigmentation* INCREASED sex hormone (androgens)* Fused labia* Partial male genitalia
Additional Reading
* Congenital Adrenal Hyperplasia (Wikipedia)
Transcript
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| 0:00.0 | Hello, med students. |
| 0:02.3 | My name is Zach Olson, and thank you for downloading this week's episode of the EM Clerkship |
| 0:08.4 | Podcast. |
| 0:10.3 | We're still working through our super high-yield pediatric panic algorithm. |
| 0:15.7 | Oh shit, grab the braslow. |
| 0:17.9 | Let's repeat our case. |
| 0:24.5 | Okay. the braslow. Let's repeat our case. Okay, everybody, this is Dakota. He's a three and a half year old male is awoken with |
| 0:28.8 | diffuse abdominal pain. According to mom, he vominated about five times. Some of that was productive. |
| 0:34.2 | Has a rash on the interior chest. He was lethargic when we got there since we've been |
| 0:38.8 | there with him and through the transport now crying as you can see long sounds |
| 0:43.6 | were clear as far as we can tell we then noticed O2 sats dropping and had |
| 0:48.4 | cyanosis around the lips so he put him on O2 he's one he had no previous fever now 102.3 rectal mom and extended |
| 0:57.5 | family are out here so just FYI GCS at 10 BP 100 over 60 |
| 1:02.2 | Pulse of 120 97% on the O2 and no allergies no meds had not been sick for the |
| 1:08.2 | past couple days any questions anybody I know it's a lot. He's kind of |
| 1:11.8 | crunking on us. Okay? Thank you. All right. So we've been working through this. We've started |
| 1:22.6 | oxygen and considered our airway and breathing emergencies. We've checked that blood sugar for hyper and hypoglycemia. |
| 1:31.2 | We worked up and treated for possible sepsis. |
| 1:34.2 | We've considered those congenital heart syndromes. |
| 1:38.0 | And today we are covering eye, inborn errors of metabolism and endocrinology. |
| 1:47.8 | And I can hear the groans. But this is important. |
| 1:55.9 | Inborn errors of metabolism are a huge family of diseases that you learned about in biochemistry. And in this category also falls the famous high yield endocrine disorder, congenital adrenal hyperplasia. |
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