Inborn Errors of Metabolism can be challenging to diagnose and manage in the ED, but we should be familiar with the basic issues. Let's take a moment to rebake a morsel on this important topic of Inborn Errors of Metabolism presenting to the ED.
The child with altered mental status certainly grabs our attention (rightfully so) and we have discussed several related topics. We often consider the infectious concerns (ex, Encephalitis, Meningitis, Sepsis) and traumatic etiologies (ex, head injury, hemorrhagic shock). We are always…
Call me crazy, but discussing Measles last week got me feeling nostalgic. Mumps, Tetanus, and Chicken Pox similarly harken back to the early days… you know, when safe and reliable vaccines didn’t exist. I distinctly remember having chicken pox personally…
Children have very few responsibilities and even fewer jobs (just ask my kids). The one job young children have is growing. We have discussed some Growth and Development topics previously (ex, Milestones, Infant Formula, Growth Estimates). Occasionally, that single job…
Apparent Life-Threatening Event (ALTE) Being specialists of emergencies we are facile with managing events that have the potential to threaten a person’s life. It is interesting, then, that when a child presents to the ED with an Apparent Life-Threatening Event…
Often our job requires us to consider the presence of needles of significant illness in the haystack of nonspecific symptoms. Inborn Errors of Metabolism For the child with neurologic abnormalities, vomiting, acidosis, hypoglycemia, organomegaly, or cardiopulmonary arrest remember to consider…