Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report [PDF]
Journal of Medical Case ReportsBackground Sitosterolemia is an autosomal recessive genetic disorder characterized by hypercholesterolemia and tendon/hip xanthomas, primarily caused by pathogenic mutations in the ABCG5 or ABCG8 gene.
Li-Li Wu +7 more
doaj +2 more sources
From Bernard-Soulier syndrome to sitosterolemia: the role of genetic analysis in bleeding diathesis [PDF]
Thrombosis JournalBleeding diathesis’ diagnosis can be challenging due to the high number of disorders with hemorrhagic symptomatology. Sitosterolemia is a rare disease characterized by increased sterols plasma levels and cardiovascular, cutaneous, articular, and ...
Cristina Marrero-Cepeda +6 more
doaj +2 more sources
Sitosterolemia With Atherosclerosis in a Child: A Case Report
Frontiers in Pediatrics, 2021 Introduction: Sitosterolemia is a rare condition in children and is often misdiagnosed as familial hypercholesterolemia. Serious complications can result if not treated promptly and effectively.
Hongjun Ba, Yuese Lin, Xuandi Li
exaly +3 more sources
Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease If Identified but Fatal If Missed
Annals of Hepatology, 2017 Sitosterolemia is an autosomal recessive metabolic disease caused by mutations in ABCG5 or ABCG8 genes which encode for the (ATP)-binding cassette (ABC) transporters that are responsible for the trafficking of xenosterols.
Fateh Bazerbachi +2 more
exaly +3 more sources
Gene variants and clinical characteristics of children with sitosterolemia [PDF]
Lipids in Health and DiseaseObjective To enhance the detection, management and monitoring of Chinese children afflicted with sitosterolemia by examining the physical characteristics and genetic makeup of pediatric patients.
Rui Gu +10 more
doaj +2 more sources
Cerebral involvement in sitosterolemia [PDF]
Lipids in Health and DiseaseBackground Sitosterolemia, an autosomal recessive condition, is characterized by impaired metabolism of plant sterols. Clinical symptoms include skin xanthoma, premature atherosclerotic disease, arthritis, and unexplained hematological abnormalities ...
Fangjun Li +8 more
doaj +2 more sources
Reassessing very long chain fatty acids elevations: Sitosterolemia as a non-peroxisomal cause [PDF]
Molecular Genetics and Metabolism ReportsVery-long-chain fatty acids (VLCFAs) are commonly used to diagnose peroxisomal disorders, but elevated levels may also result from other non-peroxisomal causes, leading to diagnostic challenges.
Merve Yoldaş Çelik +3 more
doaj +2 more sources
Whole exome sequencing identifies concurrent LDLR and ABCG8 mutations in a Saudi family with familial hypercholesterolemia and Sitosterolaemia [PDF]
Frontiers in GeneticsBackgroundSitosterolemia and Familial hypercholesterolemia (FH) represent two genetically distinct lipid metabolism disorders marked by disparate inheritance mechanisms and therapeutic responses. It is typically inherited in an autosomal dominant pattern
Abdulrahman Hummadi +22 more
doaj +2 more sources
Sitosterolemia carrying both ABCG5 and HBA gene mutations: a case report and review of the literature [PDF]
Journal of Medical Case ReportsBackground Mutations in the ABCG5 gene can cause sitosterolemia, which is a rare lipid metabolism disorder characterized by impaired regulation of phytosterols, leading to their excessive accumulation in tissues and organs, which triggers various ...
Xiaobing Sun +6 more
doaj +2 more sources
ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction
Platelets, 2021 JOSÉ Maria Bastida +2 more
exaly +2 more sources