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Sitosterolemia-An Underdiagnosed and Heterogeneous Lipid Disorder. A Case Series From a Tertiary Care Centre in Australia.
J Paediatr Child Health
January 2025
Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Aims: Sitosterolemia, is a disorder of increased plant sterol levels leading to a variable presentation and haematological manifestations. Although considered rare, the prevalence is likely underestimated due to the variable phenotype and challenges in diagnosis. The delayed diagnosis may lead to cardiovascular complications.
View Article and Find Full Text PDFReassessing very long chain fatty acids elevations: Sitosterolemia as a non-peroxisomal cause.
Mol Genet Metab Rep
March 2025
Demiroglu Bilim University Faculty of Medicine, Department of Medical Genetics, Istanbul, Türkiye.
Very-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. We report the case of a 2-year-old girl presenting with growth retardation and diarrhea, with laboratory investigations revealing elevated VLCFA levels suggestive of a peroxisomal disorder. Despite initial suspicion, genetic panels for peroxisomal and dyslipidemia-associated genes were negative.
View Article and Find Full Text PDFA sterol panel for rare lipid disorders: sitosterolemia, cerebrotendinous xanthomatosis, and Smith-Lemli-Opitz syndrome.
J Lipid Res
November 2024
Lipid Clinic, Oslo University Hospital, Aker, Oslo, Norway; Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway.
Article Synopsis
- Patients with rare lipid disorders have specific sterols that accumulate in their blood, making accurate measurement crucial for diagnosis and treatment monitoring.
- Existing methods to test sterols can be complicated and time-consuming, limiting access to tests in many areas.
- A new, simple method using isotope-dilution LC-MS/MS was developed to quickly extract and measure sterols in blood, validated through analysis of serum samples from both healthy controls and patients, showing significant differences in sterol levels linked to various disorders.
Identification of a homozygous variant in ABCG5 by panel sequencing in a Pakistani family with sitosterolemia: Genotype-phenotype correlation and management considerations.
J Clin Lipidol
October 2024
Department of Biological Sciences, National University of Medical Sciences, Rawalpindi 46000, Pakistan. Electronic address:
Sitosterolemia is a rare autosomal recessive disorder characterized by impaired excretion of plant sterols, leading to their accumulation in tissues and organs. We identified a hitherto unreported homozygous variant, in ATP-binding cassette sub-family G member 5 (ABCG5) (NM_022436.3) c.
View Article and Find Full Text PDFGenome-wide association study and meta-analysis of phytosterols identifies a novel locus for serum levels of campesterol.
Hum Genomics
August 2024
Division of Genomics and Translational Biomedicine, College of Health and Life Sciences, Hamad Bin Khalifa University, P.O. Box 34110, Doha, Qatar.
Sitosterolemia is a rare inherited disorder caused by mutations in the ABCG5/ABCG8 genes. These genes encode proteins involved in the transport of plant sterols. Mutations in these genes lead to decreased excretion of phytosterols, which can accumulate in the body and lead to a variety of health problems, including premature coronary artery disease.
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