A mild case of abetalipoproteinaemia in association with subclinical hypothyroidism.
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.
Al-Mahdili
Huda A
HA
Department of Clinical Biochemistry, Royal Prince Alfred Hospital, Camperdown, NSW, Australia. huda.ahmed@email.cs.nsw
Hooper
Amanda J
AJ
Sullivan
David R
DR
Stewart
Peter M
PM
Burnett
John R
JR
D000012:Abetalipoproteinemia / Q000150:complications / Q000235:genetics*; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics; D005260:Female; D006801:Humans; D007037:Hypothyroidism / Q000209:etiology / Q000235:genetics*; D008297:Male; D008861:Microsomes / Q000378:metabolism; D010375:Pedigree
D002352:Carrier Proteins; C106092:microsomal triglyceride transfer protein