Chylomicron retention disease

A hereditary autosomal recessive disorder characterized by severe fat malabsorption associated with failure to thrive in infancy due to hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells. Mutations in the SAR1B gene have been identified. OMIM: 246700

Also Known As:

Networked: 45 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Abetalipoproteinemia (Bassen Kornzweig Syndrome)
2.	Hypobetalipoproteinemias (Hypobetalipoproteinemia)
3.	Malabsorption Syndromes (Malabsorption Syndrome)
4.	Chylomicron retention disease
5.	Failure to Thrive

Experts

1.	Levy, Emile: 7 articles (01/2021 - 01/2008)
2.	Lachaux, Alain: 5 articles (01/2021 - 01/2008)
3.	Peretti, Noel: 4 articles (01/2021 - 06/2009)
4.	Peretti, Noël: 4 articles (01/2021 - 01/2008)
5.	Spahis, Schohraya: 3 articles (01/2021 - 05/2014)
6.	Di Leo, Enza: 3 articles (07/2019 - 01/2013)
7.	Tarugi, Patrizia: 3 articles (07/2019 - 01/2013)
8.	Sassolas, Agnès: 3 articles (01/2018 - 01/2008)
9.	Deslandres, Colette: 3 articles (12/2017 - 01/2008)
10.	Beaulieu, Jean-François: 2 articles (01/2021 - 05/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Chylomicron retention disease:

1.	Vitamin EFDA LinkGeneric 12/01/2016 - "Chylomicron retention disease (CMRD), a rare genetic hypocholesterolemia, results in neuro-ophtalmologic damages, which can be prevented by high doses of vitamin E during infancy. " 01/01/2018 - "Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease." 02/01/2000 - "We speculate that both chylomicron retention disease and Marinesco-Sjögren syndrome are related to defects in a gene crucial for the assembly or secretion of the chylomicron particles, leading to very low serum levels of vitamin E."
2.	ChylomicronsIBA 01/01/2023 - "Biallelic pathogenic variants of the Sar1b gene cause chylomicron retention disease (CRD) whose central phenotype is the inability to secrete chylomicrons. " 01/01/2021 - "Chylomicron retention disease (CRD) is an autosomal recessive disorder associated with biallelic Sar1b mutations leading to defects in intracellular chylomicron (CM) trafficking and secretion. " 04/01/2004 - "Patients with chylomicron retention disease and Anderson disease selectively retain chylomicron-like particles within membrane-bound compartments. " 02/22/2013 - "Defective chylomicron formation is responsible for inherited lipoprotein deficiencies, including abetalipoproteinaemia, hypobetalipoproteinaemia and chylomicron retention disease. " 06/01/2009 - "Through their inhibition of chylomicron secretion, mutations of the Sar1B gene coding for Sar1 GTPase are associated with chylomicron retention disease (CRD). "
3.	Lipoproteins (Lipoprotein)IBA 02/01/2015 - "Studying lipoprotein trafficking in zebrafish, the case of chylomicron retention disease." 01/01/2019 - "Lipoprotein disorders include abetalipoproteinemia, familial hypobetalipoproteinemia, chylomicron retention disease, and familial combined hypolipidemia. " 10/01/1996 - "This article reviews briefly the current state of knowledge about inherited lipoprotein deficiencies, including abetalipoproteinemia, hypobetalipoproteinemia and chylomicron retention disease. " 02/22/2013 - "Defective chylomicron formation is responsible for inherited lipoprotein deficiencies, including abetalipoproteinaemia, hypobetalipoproteinaemia and chylomicron retention disease. " 07/01/2012 - "We will summarize current concepts of regulated lipoprotein secretion (including HDL and chylomicron pathways) and include lessons learned from families with genetic mutations in dominant pathways (i.e., abetalipoproteinemia, chylomicron retention disease, and familial hypobetalipoproteinemia). "
4.	LipidsIBA 07/01/2019 - "We report 4 children with intestinal lipid malabsorption were found to have chylomicron retention disease due to 3 novel variants in the SAR1B gene." 02/01/2015 - "Animal model of Sar1b deficiency presents lipid absorption deficits similar to Anderson disease." 11/21/2020 - "Chylomicron Retention Disease (CMRD) is a rare inherited lipid malabsorption syndrome that exhibits a recessive hypocholesterolemia in infants. " 06/01/2012 - "Anderson disease is a rare inherited lipid malabsorption syndrome associated with hypocholesterolemia and linked to SAR1B mutations. " 01/14/2011 - "Anderson's disease (AD) or chylomicron retention disease (CMRD) is a very rare hereditary lipid malabsorption syndrome. "
5.	Proteins (Proteins, Gene)FDA Link 10/11/2021 - "Genetic testing confirmed chylomicron retention disease with the first description of variant located in the fourth helix of sar1b protein. " 01/14/2011 - "Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease)." 01/01/2008 - "Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein." 11/21/2011 - "Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence." 03/05/2020 - "Chylomicron retention disease (CMRD), also known as Anderson's disease, is an autosomal recessive condition with a genetic mutation in the secretion associated Ras related GTPase 1B (SAR1B) gene, a protein coding gene. "
6.	Apolipoproteins B (ApoB)IBA 11/01/1987 - "Chylomicron retention disease is characterized by fat malabsorption, hypocholesterolemia, normal fasting triglycerides, and marked intestinal steatosis despite the presence of both plasma and intestinal apoprotein B. " 03/14/2018 - "Targeted next generation DNA sequencing revealed several rare heterozygous missense variants in both MTTP and APOB genes known or predicted to be deleterious, in addition to a novel heterozygous missense variant in SAR1B, which encodes the gene causing chylomicron retention disease. " 11/01/1998 - "A third apo-B deficiency syndrome, Anderson's disease (or chylomicron retention disease), is characterized by the inability to secrete apo-B-containing chylomicrons from the intestine but an apparently normal capacity to secrete lipoproteins from the liver. " 11/01/1987 - "Intestinal apoB synthesis, lipids, and lipoproteins in chylomicron retention disease." 02/15/2016 - "Abetalipoproteinemia and chylomicron retention disease are due to mutations in the microsomal transfer protein and Sar1b-GTPase genes, which affect the secretion of apoB containing lipoproteins. "
7.	O(4)-methylthymidine triphosphateIBA 11/04/2023 - "We focused on abetalipoproteinemia (FHBL-SD1) and chylomicron retention disease (FHBL-SD3), caused by mutations in MTTP and SAR1B genes, respectively. " 01/01/2013 - "Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia." 03/14/2018 - "Targeted next generation DNA sequencing revealed several rare heterozygous missense variants in both MTTP and APOB genes known or predicted to be deleterious, in addition to a novel heterozygous missense variant in SAR1B, which encodes the gene causing chylomicron retention disease. " 01/18/2023 - "Abetalipoproteinemia (FHBL-SD1) and chylomicron retention disease (FHBL-SD3) are rare recessive disorders of lipoprotein metabolism due to mutations in MTTP and SAR1B genes, respectively, which lead to defective chylomicron formation and secretion. " 07/01/2019 - "Intestinal lipid malabsorption, resulting from an impaired formation or secretion of chylomicrons and associated with severe hypobetalipoproteinemia (HBL), may be due to biallelic mutations in APOB (homozygous FHBL type-1), MTTP (abetalipoproteinemia), or SAR1B (chylomicron retention disease). "
8.	ApolipoproteinsIBA 06/01/2012 - "Low rate of production of apolipoproteins B100 and AI in 2 patients with Anderson disease (chylomicron retention disease)." 06/01/2012 - "The aim of this article was to analyze the mechanisms responsible for the low plasma apolipoprotein Apo-B100 and Apo-AI in 2 patients with Anderson disease. " 08/01/1994 - "Chylomicron retention disease: exclusion of apolipoprotein B gene defects and detection of mRNA editing in an affected family." 01/01/2021 - "Familial intestinal hypocholesterolemias, such as abetalipoproteinemia, hypobetalipoproteinemia, and chylomicron retention disease, are rare genetic diseases that result in a defect in the synthesis or secretion of lipoproteins containing apolipoprotein B.In children, these conditions present with diarrhoea and growth failure, whereas adults present with neuromuscular, ophthalmological, and hepatic symptoms. " 08/01/1994 - "Chylomicron retention disease (CRD) is a rare autosomal recessive disorder characterized by the absence of post-prandial chylomicrons and apolipoprotein (apo) B-48 in sera from affected individuals. "
9.	Apolipoprotein B-48IBA 11/21/2011 - "Anderson's Disease (AD)/Chylomicron Retention Disease (CMRD) is a rare hereditary hypocholesterolemic disorder characterized by a malabsorption syndrome with steatorrhea, failure to thrive and the absence of chylomicrons and apolipoprotein B48 post-prandially. " 08/01/1994 - "Chylomicron retention disease (CRD) is a rare autosomal recessive disorder characterized by the absence of post-prandial chylomicrons and apolipoprotein (apo) B-48 in sera from affected individuals. " 01/01/2023 - "Monogenic hypocholesterolemia disorders caused by the complete absence of apolipoprotein (apo) B-containing lipoproteins (abetalipoproteinemia and homozygous hypobetalipoproteinemia) or an isolated absence of apo B-48 lipoproteinemia (chylomicron retention disease) lead to clinical sequelae. "
10.	EnzymesIBA 01/01/2007 - "A specific treatment is available for Fabry-Anderson disease consisting of intravenous enzyme replacement therapy (ERT) of the deficient enzyme. " 05/01/2014 - "Mutations in this key enzyme impair intestinal lipid transport and cause chylomicron retention disease. " 05/01/2011 - "Fabry-Anderson disease is a lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase. "

Therapies and Procedures

1.	Enzyme Replacement Therapy 01/01/2007 - "Enzyme replacement therapy in orphan and ultra-orphan diseases: the limitations of standard economic metrics as exemplified by Fabry-Anderson disease." 01/01/2007 - "A specific treatment is available for Fabry-Anderson disease consisting of intravenous enzyme replacement therapy (ERT) of the deficient enzyme. "
2.	Fat-Restricted Diet (Diet, Fat Restricted) 11/01/1987 - "Following 2-3 years of a low fat diet supplemented with medium chain triglycerides, six patients with chylomicron retention disease had significantly higher triglyceride (TG) levels coupled with a decrease in both free (FC) and esterified cholesterol (EC) as well as in essential fatty acids and phospholipids (PL) when compared to healthy controls. "
3.	Salvage Therapy 03/11/2012 - "Successful salvage therapy with Daptomycin for osteomyelitis caused by methicillin-resistant Staphylococcus aureus in a renal transplant recipient with Fabry-Anderson disease."
4.	Blood Transfusion (Blood Transfusions) 04/01/2022 - "The different infiltrative cardiomyopathies are amyloidosis (both light chain amyloidosis and transthyretin amyloidosis variants), lysosomal and glycogen storage disorders (Fabry-Anderson disease), and iron overload (hemochromatosis and thalassemia associated with blood transfusions), as well as inflammatory diseases such as sarcoidosis. "