Related Experiment Video
Updated: Aug 11, 2026

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
[Familial hypobetalipoproteinemia]
M Gassó de Campos1, B Espín Jaime, J Gómez Arias
1Servicios de Análisis Clínicos. Complejo Hospitalario de Jaén. España. mgasso@supercable.es
Abstract:
We present the case of a 5-month-old girl, with consanguineous parents, who was born at 28 weeks of gestation and who showed intermittent signs of abdominal distension accompanied by increased regurgitation and vomiting after food intake. Significant biochemical alterations (reduced levels of triglicerides, cholesterol, and vitamin A and absence of apolipoprotein B and vitamin E) led to the diagnosis of homozygous hypobetalipoproteinemia, which was subsequently confirmed by genetic studies.
Related Concept Videos
Genetic Lingo
Pedigree Analysis
Overview of Lipid Metabolism
Lipolysis: The Breakdown of Lipids:
Lipolysis is the process of breaking down lipids, particularly triglycerides, into glycerol and fatty acids. This process typically occurs in the adipose tissue and is triggered by various hormones, including glucagon and...
Lipid Absorption
These breakdown products bind with bile salts and lecithin to form micelles, which quickly pass between microvilli to come in close contact with the apical...
Blood Studies for Cardiovascular System III: Serum Lipid Profile
Serum lipids are fats and fatty substances in the blood and are crucial for various bodily functions, including energy storage, cellular structure, and hormone production. Serum lipids consist of cholesterol, triglycerides, and phospholipids.
Cholesterol is a soft, fat-like substance found in all body cells. It is crucial for producing hormones, vitamin D, and substances that aid...
Cardiomyopathy III: Hypertrophic Cardiomyopathy

