Mini Review
Adriana Carol Eleonora Graz
Abstract
Globoid cell leukodystrophy, also known as Krabbe disease, is an inherited metabolic neurodegenerative disease, due to genetic mutation of β-galactocerebrosidase gene. Here we reviewed how the technological advances in gene analysis have enhanced the enrichment of mutation database. Moreover, we focus on the possibility to develop genetic treatments, hoping that the updating of genetic, clinical and biochemical data will improve for an early and efficient diagnosis, until a definitive treatment option will be identified.