Uncommon Cause of Hypertriacylglycerolaemia in a Breastfed Infant
Belošovičová M.1, Behúlová V.2, Fabriciová K.1, Bzdúch V.1, Benedeková M.1
I. detská klinika LFUK a DFNsP, Bratislava,1prednostka doc. MUDr. M. Benedeková, PhD. Oddelenie klinickej biochémie DFNsP, Bratislava,2 |
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Summary:
The authors present the case-history of a 3-month old patient with severe hypertriacylglycerolaemia and
hypercholesterolaemia, where the laboratory parameters improved after mother’s breast milk was substituted for
donor’s milk, later for formula. With regard to the mentioned baseline laboratory finding which is typical for
hyperlipoproteinaemia type III (dysbetalipoproteinaemia), the authors examined in the patient apo E polymorphism.
They found phenotype E4/2 which is rare in the population and implies the presence of a mutant form of
apolipoprotein E, responsible for an abnormal catabolism of lipoprotein plasma particles. To the manifestation of
the disorder at the patient’s age contributed probably as so far undefined factor in human milk.
Key words:
hypertriacylglycerolaemia, hypercholesterolaemia, dysbetalipoproteinaemia, apolipoprotein E,
breastfeeding
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