A tale of 2 cousins: An atypical and a typical case of abetalipoproteinemia
- PMID: 27578136
- DOI: 10.1016/j.jacl.2016.01.003
A tale of 2 cousins: An atypical and a typical case of abetalipoproteinemia
Abstract
Abetalipoproteinemia (ABL) is a rare recessive genetic disease caused by mutations of the MTTP gene. This disease is characterised by a defect in the lipidation of APO B and the absence of VLDL and chylomicron production. Patients affected by ABL present neurological, hemalogical and gastro-intestinal symptoms due to deficiency in lipophilic vitamins and fat malabsorption. We herein report the case of two cousins, one presenting classical symptoms of abetalipoproteinemia and one presenting a much attenuated phenotype. The proband carried a novel combination of MTTP mutations, the 1867+1G>A and the R540C mutations. This patient never received any vitamin supplements and was relatively free of symptoms despite an undetectable APO B concentration. Her cousin was homozygous for 1867+1G>A MTTP mutation and presented most of the classical symptoms of ABL. In conclusion we report a very unusual kindred where on affected member is strongly symptomatic of ABL whereas the other presents very mostly asymptomatic disease suggesting that ABL can present itself with a very incomplete clinical penetrance.
Keywords: Abetalipoproteinemia; Apo B; Low-density lipoprotein; MTTP; Vitamin A; Vitamin E.
Copyright © 2016 National Lipid Association. Published by Elsevier Inc. All rights reserved.
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