Uncommon Cause of Hypertriacylglycerolaemia in a Breastfed Infant
M. Belošovičová 1; V. Behúlová 2; K. Fabríciová 1; V. Bzdúch 1; M. Benedeková 1
I. detská klinika LFUK a DFNsP, Bratislava, 1prednostka doc. MUDr. M. Benedeková, PhD. Oddelenie klinickej biochémie DFNsP, Bratislava
Čes-slov Pediat 2002; (7): 365-366.
The authors present the case-history of a 3-month old patient with severe hypertriacylglycerolaemia andhypercholesterolaemia, where the laboratory parameters improved after mother’s breast milk was substituted fordonor’s milk, later for formula. With regard to the mentioned baseline laboratory finding which is typical forhyperlipoproteinaemia 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 ofapolipoprotein E, responsible for an abnormal catabolism of lipoprotein plasma particles. To the manifestation ofthe disorder at the patient’s age contributed probably as so far undefined factor in human milk.
hypertriacylglycerolaemia, hypercholesterolaemia, dysbetalipoproteinaemia, apolipoprotein E,breastfeeding
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