Quantification of N-acetyl-l-aspartate in dried blood spots: A simple and fast LC-MS/MS neonatal screening method for the diagnosis of Canavan disease.

ABSTRACT:

Background

Canavan disease is a devastating neurometabolic disorder caused by accumulation of N acetylaspartate in brain and body fluids due to genetic defects in the aspartoacylase gene (ASPA). New gene therapies are on the horizon but will require early presymptomatic diagnosis to be fully effective.

Methods

We therefore developed a fast and highly sensitive liquid chromatography mass spectrometry (LC-MS/MS)-based method for quantification of N-acetylaspartate in dried blood spots and established reference ranges for neonates and older controls. With this test, we investigated 45 samples of 25 Canavan patients including 8 with a neonatal sample.

Results

Measuring N-acetylaspartate concentration in dried blood with this novel test, all Canavan patients (with variable

SUBMITTER: Posern C 

PROVIDER: S-EPMC11847322 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature