Ontology highlight
ABSTRACT:
SUBMITTER: Veit L
PROVIDER: S-EPMC6607017 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Veit Lara L Allegri Machado Gabriella G Bürer Céline C Speer Oliver O Häberle Johannes J
JIMD reports 20190528 1
Familial hypercholesterolemia due to heterozygous low-density lipoprotein-receptor mutations is a common inborn errors of metabolism. Secondary hypercholesterolemia due to a defect in phytosterol metabolism is far less common and may escape diagnosis during the work-up of patients with dyslipidemias. Here we report on two sisters with the rare, autosomal recessive condition, sitosterolemia. This disease is caused by mutations in a defective adenosine triphosphate-binding cassette sterol excretio ...[more]