May 1, 2003Acta Paediatrica

New mutations in the lipoprotein lipase gene in a young boy with chylomicronaemia syndrome and in his family

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Population

A 4-year-old boy with chylomicronaemia syndrome and 11 members of his family (n=12)

Design

Case_report

Authors

FBF D BritesUniversity of Buenos Aires FHF.L. HenriksenUniversità Cattolica del Sacro Cuore KFK. FernándezUniversity of Magdalena

Discussion

Member takes

Implication

Multiple LPL defects may underlie diet-refractory chylomicronaemia; hypothesis-generating and extends mutational spectrum.

Structured PICO

Population

A 4-year-old boy with chylomicronaemia syndrome and 11 members of his family (n=12)

Intervention

Low-fat diet and medium-chain triglycerides

Outcome

Lipoprotein profile, lipoprotein lipase (LPL) mass and activity, and nucleotide substitutions in LPL promoter and exonssurrogate

The association of multiple novel and known mutations in the LPL gene can cause severe chylomicronaemia syndrome that is resistant to standard dietary therapy.

Cite This Study

Brites et al. (2003) studied this question.

synapsesocial.com/papers/6a82c0c50f52607ca18ae541 https://doi.org/10.1111/j.1651-2227.2003.tb02517.x

View Full Paper

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New mutations in the lipoprotein lipase gene in a young boy with chylomicronaemia syndrome and in his family

Discussion

Member takes

Implication

Structured PICO

Cite This Study

New mutations in the lipoprotein lipase gene in a young boy with chylomicronaemia syndrome and in his family

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider