NCC Knowledge Nugget Series: Propionic Acidemia ACT Sheet-Propionic Acidemia Knowledge Nugget

Propionic Acidemia Knowledge Nugget

Video Transcription

Video Summary

This video from ACMG provides educational information on newborn screening for propionic acidemia (PA) and methylmalonic acidemia (MMA). Both are genetic conditions requiring early diagnosis and management. To earn CME credits, viewers must pass a quiz. The session highlights the importance of further testing after a positive newborn screening result, the underlying genetic causes, and clinical features of PA and MMA. Key steps for primary care providers include informing families, assessing clinical status, taking family history, immediate referral to a specialist, and biochemical/molecular confirmation. Resources and ongoing management practices are also discussed.

Keywords

newborn screening

propionic acidemia

methylmalonic acidemia

genetic conditions

clinical management