NCC Knowledge Nugget Series: Krabbe ACT Sheets-Krabbe Knowledge Nugget

Video Transcription

Video Summary

The video provides information on newborn screening for Krabbe Disease. It emphasizes that a positive screening result is just the first step, and further testing and evaluations are needed to confirm whether the newborn has the disease or if it is a false positive. The video describes the clinical features and genetic cause of Krabbe Disease, which is a lysosomal disease caused by pathogenic variants in the GALC gene. It discusses the different forms of the disease, symptoms, inheritance pattern, and state screening availability. The video also outlines the actions that healthcare providers should take upon receiving a positive screening result, including contacting the family, taking a family history, referring to a specialist, confirming the diagnosis, and reporting the outcome to the newborn screening program. The only available treatment option for Krabbe Disease mentioned is hematopoietic stem cell transplantation. The video suggests additional resources for obtaining more information and support for Krabbe Disease.

Keywords

newborn screening

Krabbe Disease

positive screening result

GALC gene

lysosomal disease