A mild case of abetalipoproteinaemia in association with subclinical hypothyroidism

H.A. Al-Mahdili, Amanda Hooper, D.R. Sullivan, P.M. Stewart, John Burnett

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    11 Citations (Scopus)


    Abetalipoproteinaemia (ABL), an extremely rare recessive disorder, is characterized by exceptionally low or undetectable concentrations of apolipoprotein (apo) B-containing lipoproteins. ABL results from mutations in the gene encoding microsomal triglyceride transfer protein (MTP), a chaperone that facilitates the transfer of lipids onto apoB. Patients with ABL often present in childhood with a range of symptoms including fat malabsorption and manifestations of fat-soluble vitamin deficiencies. We describe a patient with sub-clinical hypothyroidism and ABL found to be compound heterozygous for a novel splice site mutation of intron 1 (c.61 + 2T > C) and a single adenine insertion in MTP exon 4 (c.419-420insA) that results in a frameshift and a protein truncated at 140 amino acids.
    Original languageEnglish
    Pages (from-to)516-519
    JournalAnnals of Clinical Biochemistry
    Issue number6
    Publication statusPublished - 2006


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