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Article

Familial chylomicronemia syndrome and response to medium-chain triglyceride therapy in an infant with novel mutations in GPIHBP1.

Journal of clinical lipidology - 1 Jan 2000

Ahmad Zahid, Wilson Don P

Abstract excerpt

BACKGROUND: Severe hypertriglyceridemia predisposes to attacks of acute pancreatitis, a serious condition complicated by multiorgan failure, pancreatic necrosis, and mortality rates up to 20% in adults and 6.5% in children. OVERVIEW: We describe an infant who suffered from an episode of acute pancreatitis from severe hypertriglyceridemia. Two major challenges complicate the case: identifying the etiology of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25499947
DOI: 10.1016/j.jacl.2014.08.010

Genes

GPIHBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Familial chylomicronemia syndrome and response to medium-chain triglyceride therapy in an infant with novel mutations in GPIHBP1.PMID 25499947Read ↗

Successful Management of a 29-Day-Old Infant with Severe Hyperlipidemia from a Novel Homozygous Variant of GPIHBP1 GeneSemantic proximity Read ↗

A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene.Semantic proximity Read ↗

Management of a pregnant patient with chylomicronemia from a novel mutation in GPIHBP1: a case report.Semantic proximity Read ↗

Deletion of GPIHBP1 causing severe chylomicronemia.Semantic proximity Read ↗

Childhood-onset chylomicronaemia with reduced plasma lipoprotein lipase activity and mass: identification of a novelGPIHBP1mutationSemantic proximity Read ↗

A novel mutation in GPIHBP1 causes familial chylomicronemia syndrome.Semantic proximity Read ↗

Type 1 hyperlipoproteinemia in a child with large homozygous deletion encompassing GPIHBP1.Semantic proximity Read ↗

A novel homozygous variant in GPIHBP1: A case series of familial chylomicronemia syndrome from Colombia.Semantic proximity Read ↗

A three month-old infant with severe hyperchylomicronemia: molecular diagnosis and extracorporeal treatment.Semantic proximity Read ↗

Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650).Semantic proximity Read ↗

Assessment of Pediatric Hypertriglyceridemia Etiology: Insights from Next-Generation Sequencing Panels and Identification of Novel Variants.Semantic proximity Read ↗

Clinical identification of familial chylomicronemia syndrome and novel therapeutic options.Semantic proximity Read ↗

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