Cerebrospinal fluid metabolomics in autistic regression reveals dysregulation of sphingolipids and decreased β-hydroxybutyrate

Abstract excerpt

Background Autism is highly heritable, however actionable genetic findings are only found in a minority of patients. Many people with autism suffer loss of neurodevelopmental skills, known as autistic regression. The cause of regression is poorly understood, and the diagnostic and therapeutic pathways are lacking. Methods We used untargeted metabolomics using a UPLC-Q-Exactive-HFx Mass Spectrometry to examine...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Autism Spectrum Disorder Research
• Share to Lysosomal Storage Disorders Research
• Share to Neurogenesis and neuroplasticity mechanisms