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Updated: Jan 8, 2026

A Fluorescence-based Assay for Characterization and Quantification of Lipid Droplet Formation in Human Intestinal Organoids
Published on: October 13, 2019
Hipertrigliceridemia neonatal grave: Una nueva variante de empalme del gen de la lipasa de lipoproteínas
P Anil Kumar1, Hari Prasath C2
1Paediatrics, Professor & Head of the Department, Dr NTR University of Health Sciences, Siddhartha medical college, Vijayawada, Andhra Pradesh, India.
Una novedosa mutación en el gen de la lipasa de lipoproteínas (LPL) causó hipertrigliceridemia grave en un recién nacido. El diagnóstico temprano y una dieta especializada condujeron a una mejora significativa, lo que subraya la necesidad de pruebas genéticas en trastornos metabólicos raros.
Conclusiones:
- Este caso destaca una mutación novedosa en el gen LPL que causa el síndrome de quilomicronemia familiar.
- El diagnóstico genético temprano y un enfoque de tratamiento multidisciplinario e individualizado son vitales para el manejo de trastornos metabólicos raros en neonatos.
- La intervención temprana puede prevenir complicaciones graves y mejorar los resultados del paciente.
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