NCC Knowledge Nugget Series: Amino Acidemias- Elevated Citrulline ACT Sheet-Elevated Citrulline Knowledge Nugget

Video Transcription

Video Summary

The ACMG Knowledge Nugget on newborn screening focuses on detecting aminoacidemias via elevated citrulline levels. This educational session, covering 0.25 CME credits, discusses diagnostic steps following a positive newborn screening, clinical features, genetic causes, and management of these conditions. Elevated citrulline signals urea cycle defects, leading to toxic ammonia buildup. The process involves contacting the family, evaluating clinical signs, taking a family history, referring to a metabolic specialist, and confirming results through detailed biochemical and genetic tests. Treatments include diet modifications and medication, with variable outcomes. The session promotes the use of ACMG’s ACT sheets for provider guidance.

Keywords

newborn screening

aminoacidemias

elevated citrulline

urea cycle defects

ACMG ACT sheets