A mild case of abetalipoproteinaemia in association with subclinical hypothyroidism.

Abstract

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.

• Authors: Huda A Al-Mahdili, Amanda J Hooper, David R Sullivan, Peter M Stewart, John R Burnett
• Journal: Annals of clinical biochemistry (Ann Clin Biochem) Vol. 43 Issue Pt 6 Pg. 516-9 (Nov 2006) ISSN: 0004-5632 [Print] England
• PMID: 17132287 (Publication Type: Case Reports, Journal Article)

Chemical References

• Carrier Proteins
• microsomal triglyceride transfer protein

Topics

• Abetalipoproteinemia (complications, genetics)
• Adult
• Carrier Proteins (genetics)
• Female
• Humans
• Hypothyroidism (etiology, genetics)
• Male
• Microsomes (metabolism)
• Pedigree