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Chylomicron retention disease
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Reviewed October 2008
What is chylomicron retention disease?
Chylomicron retention disease is an inherited disorder that affects the absorption of dietary fats, cholesterol, and certain fat-soluble vitamins. As food is digested after a meal, molecules called chylomicrons are formed to carry fat and cholesterol from the intestine into the bloodstream. Chylomicrons are also necessary for the absorption of certain fat-soluble vitamins, such as vitamin E and vitamin D. A lack of chylomicron transport causes severely decreased absorption (malabsorption) of dietary fats and fat-soluble vitamins. Sufficient levels of fats, cholesterol, and vitamins are necessary for normal growth and development.
The signs and symptoms of chylomicron retention disease appear in the first few months of life. They can include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; and fatty, foul-smelling stools (steatorrhea). Other features of this disorder may develop later in childhood and often impair the function of the nervous system. Affected people may eventually develop decreased reflexes (hyporeflexia) and a decreased ability to feel vibrations.
How common is chylomicron retention disease?
Chylomicron retention disease is a rare condition with approximately 40 cases described worldwide.
What genes are related to chylomicron retention disease?
Mutations in the SAR1B gene cause chylomicron retention disease. The SAR1B gene provides instructions for making a protein that is involved in transporting chylomicrons within enterocytes, which are cells that line the intestine and absorb nutrients.
SAR1B gene mutations impair the release of chylomicrons into the bloodstream. A lack of chylomicrons in the blood prevents dietary fats and fat-soluble vitamins from being used by the body, leading to the nutritional and developmental problems seen in people with chylomicron retention disease.
Read more about the SAR1B gene.
How do people inherit chylomicron retention disease?
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Where can I find information about diagnosis or management of chylomicron retention disease?
These resources address the diagnosis or management of chylomicron retention disease and may include treatment providers.
General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.
Where can I find additional information about chylomicron retention disease?
You may find the following resources about chylomicron retention disease helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
What other names do people use for chylomicron retention disease?
What if I still have specific questions about chylomicron retention disease?
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding chylomicron retention disease?
apolipoprotein ; autosomal ; autosomal recessive ; cell ; cholesterol ; chylomicrons ; failure to thrive ; gene ; HDL ; intestine ; LDL ; lipid ; malabsorption ; nervous system ; protein ; recessive ; soluble ; steatorrhea ; syndrome ; vitamins
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (4 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.