Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Hypoalphalipoproteinemia is a dyslipidemia characterized by extremely low HDL levels. The condition is caused by mutations of the APOA1 and ABCA1 genes. The mode of inheritance can be either autosomal dominant or recessive. Patient show an increased cardiovascular risk.
As in lipid electrophoresis HDL particles move in the alpha fraction, hypoalphalipoproteinemia is synonymous to low HDL dyslipedemia.
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Marcil M et al. (1995) Severe familial HDL deficiency in French-Canadian kindreds. Clinical, biochemical, and molecular characterization.
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Marcil M et al. (1999) Cellular cholesterol transport and efflux in fibroblasts are abnormal in subjects with familial HDL deficiency.
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Warnick GR et al. (1995) National Cholesterol Education Program recommendations for measurement of high-density lipoprotein cholesterol: executive summary. The National Cholesterol Education Program Working Group on Lipoprotein Measurement.
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Orphanet article Orphanet ID 31153
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OMIM.ORG article Omim 604091
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Wikipedia article Wikipedia EN (Hypoalphalipoproteinemia)
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