Inborn errors of metabolism are infrequent, but they are life-threatening. Early detection and awareness of symptoms within the very first few hours of clinical presentation may save the life of a child. For any child with unexplained vomiting, change in mental status, seizures, developmental delay, or loss of milestones, genetic and metabolic disorders must be in the differential diagnosis. All pediatricians must be familiar with the results of the newborn screening, which must be reported to them promptly, and must know the best next step for any abnormal result. Here is the link of the Pediatric Board Study Guide.
www.springer.com/us/book/9783...
www.amazon.com/Pediatric-Boar...
21 июл 2024
