21

docx

School

Alverno College *

*We aren’t endorsed by this school

Course

630

Subject

Nursing

Date

Nov 24, 2024

Type

docx

Pages

1

Uploaded by samippatel22

Report
Although we developed different possible diagnoses for this patient, I similarly found that Maple Syrup Urine Disease (MSUD) is the priority diagnosis for this patient. Did you know that less than thirty newborns per year are born with this rare condition (Health Resources and Services Administration, 2022)? I also agree that the infant needs to be sent to the emergency room immediately due to his current symptoms of a metabolic crisis. Due to MSUD being a genetic condition, it is significant that the parents are referred to a genetic counselor or medical geneticist. Parents must also be tested because although carriers do not have or develop the condition, they may pass down a copy of the gene to their children (Health Resources and Services Administration, 2022). Parents with a child diagnosed with maple syrup urine disease have a one-in-four probability of having another child with the disease, which applies to all subsequent offspring (Health Resources and Services Administration, 2022). I believe that this is critical information to know before the parents decided to have more children. Reference Health Resources and Services Administration. (2022). Maple syrup urine disease. https://newbornscreening.hrsa.gov/conditions/maple-syrup-urine-disease
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