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  • Clinical features and genetic analysis of three patients with severe hypertriglyceridaemia

    Author(s)
    Hooper, Amanda J
    Kurtkoti, Jagadeesh
    Hamilton-Craig, Ian
    Burnett, John R
    Griffith University Author(s)
    Hamilton-Craig, Ian
    Year published
    2014
    Metadata
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    Abstract
    Hypertriglyceridaemia is a common biochemical abnormality that can be due to primary causes or, more commonly, secondary causes. Moderate hypertriglyceridaemia is a risk factor for cardiovascular disease and can develop into severe hypertriglyceridaemia which is a risk factor for acute pancreatitis. Familial chylomicronaemia is a rare autosomal recessive disorder, usually diagnosed in childhood and is characterized by marked hypertriglyceridaemia and biochemical deficiency of lipoprotein lipase (LPL), apolipoprotein (apo) C-II, homozygous (or compound heterozygous) gene mutations in LPL or more rarely, APOC2. Recently, ...
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    Hypertriglyceridaemia is a common biochemical abnormality that can be due to primary causes or, more commonly, secondary causes. Moderate hypertriglyceridaemia is a risk factor for cardiovascular disease and can develop into severe hypertriglyceridaemia which is a risk factor for acute pancreatitis. Familial chylomicronaemia is a rare autosomal recessive disorder, usually diagnosed in childhood and is characterized by marked hypertriglyceridaemia and biochemical deficiency of lipoprotein lipase (LPL), apolipoprotein (apo) C-II, homozygous (or compound heterozygous) gene mutations in LPL or more rarely, APOC2. Recently, loss-of-function mutations in the APOA5 gene have been reported in patients with severe hypertriglyceridaemia in whom LPL or APOC2 mutations were not found. We describe the clinical features and genetic analysis of three patients with severe hypertriglyceridaemia including novel mutations LPL c.464T>C (p.Leu155Pro) and APOA5 c.823C>T (p.Gln275*).
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    Journal Title
    Annals of Clinical Biochemistry
    Volume
    51
    Issue
    4
    DOI
    https://doi.org/10.1177/0004563214525767
    Subject
    Medical biochemistry and metabolomics
    Clinical sciences
    Publication URI
    http://hdl.handle.net/10072/65067
    Collection
    • Journal articles

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