Deletion of GPIHBP1 causing severe chylomicronemia
نویسندگان
چکیده
منابع مشابه
Autoantibodies against GPIHBP1 as a Cause of Hypertriglyceridemia.
BACKGROUND A protein that is expressed on capillary endothelial cells, called GPIHBP1 (glycosylphosphatidylinositol-anchored high-density lipoprotein binding protein 1), binds lipoprotein lipase and shuttles it to its site of action in the capillary lumen. A deficiency in GPIHBP1 prevents lipoprotein lipase from reaching the capillary lumen. Patients with GPIHBP1 deficiency have low plasma leve...
متن کاملChylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects.
BACKGROUND Recent studies in mice have established that an endothelial cell protein, glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1), is essential for the lipolytic processing of triglyceride-rich lipoproteins. METHODS AND RESULTS We report the discovery of a homozygous missense mutation in GPIHBP1 in a young boy with severe chylomicronemia. The muta...
متن کاملA 1-month-old infant with chylomicronemia due to GPIHBP1 gene mutation treated by plasmapheresis
Chylomicronemia is a severe type of hypertriglyceridemia characterized by chylomicron accumulation that arises from a genetic defect in intravascular lipolysis. It requires urgent and proper management, because serious cases can be accompanied by pancreatic necrosis or persistent multiple organ failure. We present the case of a 1-month-old infant with chylomicronemia treated by plasmapheresis. ...
متن کاملChylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase.
OBJECTIVE GPIHBP1 is an endothelial cell protein that binds lipoprotein lipase (LPL) and chylomicrons. Because GPIHBP1 deficiency causes chylomicronemia in mice, we sought to determine whether some cases of chylomicronemia in humans could be attributable to defective GPIHBP1 proteins. METHODS AND RESULTS Patients with severe hypertriglyceridemia (n=60, with plasma triglycerides above the 95th...
متن کاملA Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy
BACKGROUND AND OBJECTIVES Nemaline myopathy may be caused by pathogenic variants in the TPM3 gene and is then called NEM1. All previously identified disease-causing variants are point mutations including missense, nonsense and splice-site variants. The aim of the study was to identify the disease-causing gene in this patient and verify the NM diagnosis. METHODS Mutation analysis methods inclu...
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ژورنال
عنوان ژورنال: Journal of Inherited Metabolic Disease
سال: 2011
ISSN: 0141-8955,1573-2665
DOI: 10.1007/s10545-011-9406-5