NCC Knowledge Nugget Series: Glutaric Acidemia Type 2 ACT Sheet-Glua Type 2 Knowledge Nugget

Video Transcription

Video Summary

The video provides an educational overview of Gluteric Acidemia Type 2, covering its genetic causes, clinical features, and the diagnostic process following a positive newborn screening result. It is intended for healthcare providers and includes steps for managing positive results, such as immediate family notification, clinical evaluations, referral to specialists, and confirmatory testing. The condition is caused by impairments in mitochondrial enzymes, leading to metabolic acidosis and symptoms like lethargy and muscle weakness. Treatment is lifelong and includes avoiding fasting and taking supplements. ACT sheets are available as resources for managing positive screens.

Keywords

Gluteric Acidemia Type 2

genetic causes

diagnostic process

clinical management

mitochondrial enzymes