ArticleLipids in health and disease2016
Clinical, biochemical and molecular analysis of two infants with familial chylomicronemia syndrome.
Article in Lipids in health and disease, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 8 citations in OpenAlex.
- A Case Report of Familial Chylomicronemia Syndrome With Infantile Onset: One-Year Follow-Up on Lipid Profile and Growth Development.Clinical case reports · 2026Article
- Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia-induced acute pancreatitis.JIMD reports · 2024Article
- [A case of neonatal-onset type I hyperlipoproteinemia with bloody ascites].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Article
- The Effects of Pregnancy on Amino Acid Levels and Nitrogen Disposition.Metabolites · 2023Article
- Management strategy and novel ophthalmological findings in neonatal severe hypertriglyceridemia: a case report and literature review.Lipids in health and disease · 2021Review
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
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Abstract
Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disease due mainly to inherited deficiencies in the proteins or enzymes involved in the clearance of triglycerides from circulation. It usually happens in late childhood and adolescence, which can have serious consequences if misdiagnosed or untreated. In the present study, we investigated two Chinese male babies (A and B), 30d and 48d in age, respectively, who have milky plasma. Clinical, biochemical, and radiological assessments were performed, while samples from the patients were referred for molecular diagnosis, including genetic testing and subsequent analysis of related genes. The fasting serum lipids of the two patients showed extreme lipid abnormalities. Through a low-lipid formula diet including skimmed milk and dietary advice, their plasma lipid levels were significantly lower and more stable at the time of hospital discharge. The genetic testing revealed compound heterozygote mutations in the lipoprotein lipase (LPL) gene for patient A and two known compound heterozygote LPL gene mutations for the patient B. FCS is the most dramatic example of severe hypertriglyceridemia. Early diagnosis and timely dietary intervention is very important for affected children.
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