{
  "abstract": "This report describes a newborn presenting with severe hypertriglyceridaemia, later identified as having a novel mutation in the lipoprotein lipase (LPL) gene. The infant was brought to a tertiary care unit with respiratory distress and febrile symptoms. Diagnostic investigations revealed significantly elevated serum triglyceride and cholesterol levels, alongside lipaemia retinalis, consistent with familial chylomicronaemia syndrome. Genetic analysis confirmed a homozygous variant in intron 5 of the LPL gene: c.776–5C>G, the first of its kind reported globally. Management included a fat-restricted diet with medium-chain triglyceride supplementation, resulting in a dramatic biochemical improvement. This case highlights the importance of early genetic evaluation, precise diagnosis and individualised treatment plans in rare metabolic disorders. Regular monitoring and a multidisciplinary approach were integral to achieving positive outcomes and preventing severe complications.",
  "authors": [
    {
      "affiliations": [
        "Paediatrics, Professor & Head of the Department, Dr NTR University of Health Sciences, Siddhartha medical college, Vijayawada, Andhra Pradesh, India"
      ],
      "name": "P Anil Kumar"
    },
    {
      "affiliations": [
        "Paediatrics, Resident, Dr NTR University of Health Sciences, Siddhartha medical college, Vijayawada, Andhra Pradesh, India"
      ],
      "name": "Hari Prasath C"
    }
  ],
  "title": "Neonatal severe hypertriglyceridaemia: A novel lipoprotein lipase gene splicing variant",
  "uid": "08893ba9-8ea5-5100-aa55-7f99062059ed"
}