The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.

Adam J GuenzelColeman T TurgeonKim K NickanderAmy L WhiteDawn S PeckGisele B PinoApril L StudinskiVinod K PrasadJoanne KurtzbergMaria L EscolarMaria Laura Duque LasioJoan E PellegrinoAi SakonjuRachel E HickeyNatalie M ShallowMargie A ReamJoseph J OrsiniMichael H GelbKimiyo RaymondDimitar K GavrilovDevin OglesbeePiero RinaldoSilvia TortorelliDietrich Matern

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

This study supports PSY quantitation as a critical component of NBS for KD. It helps to differentiate infantile from later onset KD variants, as well as from GALC variant and pseudodeficiency carriers. Additionally, this study provides further data that PSY measurement can be useful to monitor KD progression before and after treatment.

Keyphrases

mass spectrometry
ms ms
machine learning
gene expression
liquid chromatography
high resolution
deep learning
genome wide
data analysis