Age-related changes of cholestanol and lathosterol plasma concentrations: an explorative study.

ABSTRACT: BACKGROUND:Cerebrotendinous xanthomatosis (CTX) and Lathosterolosis represent two treatable inherited disorders of cholesterol metabolism that are characterized by the accumulation of cholestanol and lathosterol, respectively. The age of the patients suspected of having these disorders is highly variable due to the very different phenotypes. The early diagnosis of these disorders is important because specific therapeutic treatment could prevent the disease progression. The biochemical diagnosis of these defects is generally performed analyzing the sterol profile. Since age-related levels of these sterols are lacking, this study aims to determine a preliminary comparison of plasma levels of cholestanol and lathosterol among Italian unaffected newborns, children and healthy adults. METHODS:T

SUBMITTER: Gelzo M 

PROVIDER: S-EPMC6937658 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature