Filter...

AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesInformation Science

Select a category...

HypobetalipoproteinemiasXanthomatosisHypobetalipoproteinemia, Familial, Apolipoprotein BApolipoproteins CApolipoproteins BHypolipoproteinemiasApolipoprotein B-100AbetalipoproteinemiaApolipoprotein A-ILipoproteins, VLDLHeterozygoteLipoproteinsTriglyceridesLipoproteins, LDLPedigreeApolipoprotein B-48CholesterolApolipoproteins EApolipoproteinsCholesterol, LDLHomozygoteLipidsApolipoprotein C-IIIApolipoproteins AApolipoprotein E4Apolipoprotein E3Base SequenceMutationApolipoprotein A-IICholesterol, HDLApolipoprotein C-IILiverMolecular Sequence DataApolipoprotein E2Apolipoprotein C-IExonsFatty LiverLipoproteins, HDLApoprotein(a)Lipoprotein(a)Cytidine DeaminaseReceptors, LDLRNA EditingLipoproteins, IDLAmino Acid SequenceHyperlipidemia, Familial CombinedHyperlipoproteinemia Type IIHyperlipidemiasChylomicronsArteriosclerosisLipid MetabolismAtherosclerosisHyperlipoproteinemiasApolipoproteins DHypercholesterolemiaOleic AcidCholesterol EstersCholesterol, VLDLRNA, Messenger

HomozygousLipoproteinHypercholesterolemiaAbetalipoproteinemiaHeterozygousLipoproteinsFHBLChylomicronsDyslipidemiaHypertriglyceridemiaDisordersMalabsorptionMutationsLiverResultsAPOB-Related Familial HypobetalipoproteinemiaHomozygousTriglyceridesCholesterolMetabolismProteinIndividualsClinical

Homozygous1

• MANNHEIM, Germany - Lomitapide , which reduces lipoprotein production in the liver, could help manage pediatric homozygous familial hypercholesterolemia (HoFH), suggest results of a trial that showed large reductions in circulating lipids . (medscape.com)

Lipoprotein7

• Abetalipoproteinemia (ABL) and familial hypobetalipoproteinemia (FHBL) are relatively uncommon inherited disorders of lipoprotein metabolism that cause low cholesterol levels. (medscape.com)
• Each lipoprotein is characterized by its lipid composition and by the type and number of apolipoproteins it possesses. (medscape.com)
• these apolipoproteins have lipid-soluble segments, the beta apolipoproteins, which remain part of the lipoprotein throughout its metabolism. (medscape.com)
• Apolipoprotein B deficiency is an autosomal dominant disorder resulting from a missense mutation which reduces the affinity of apoB-100 for the low-density lipoprotein receptor (LDL Receptor). (wikipedia.org)
• Inactivity of lipoprotein lipase (LPL) plays the predominant role in the development of familial hypertriglyceridemia. (mdwiki.org)
• Lomitapide inhibits microsomal triglyceride transfer protein, which plays a key role in apolipoprotein B-containing lipoprotein assembly and secretion in the liver and intestines. (medscape.com)
• It is a low-density lipoprotein, though it is slightly larger than an LDL particle and contains two apolipoprotein(a) molecules and one apolipoprotein B molecule. (medscape.com)

Hypercholesterolemia1

• The clinical manifestations are similar to diseases produced by mutations of the LDL receptor, such as familial hypercholesterolemia. (wikipedia.org)

Abetalipoproteinemia1

• abnormalities that impede this process result in abetalipoproteinemia (ABL) and hypobetalipoproteinemia. (medscape.com)

Heterozygous2

• His presentation was most consistent with heterozygous familial hypobetalipoproteinemia (FHBL), and the patient was cleared for Special Operations duty. (jsomonline.org)
• [4] One of the most common mutations implicated in the development of familial hypertriglyceridemia is a heterozygous inactivating mutation of the LPL gene. (mdwiki.org)

Lipoproteins5

• Other apolipoproteins (A, C, D, E, and their subtypes) are soluble and are exchanged between lipoproteins during metabolism. (medscape.com)
• Plasma phospholipid levels are very low, while plasma apolipoprotein B, chylomicrons, very-low-density lipoproteins (VLDLs), and low-density lipoproteins (LDLs) are absent. (medscape.com)
• A group of familial disorders characterized by elevated circulating cholesterol contained in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). (nih.gov)
• Type IIb hyperlipoproteinemia is caused by mutation in the receptor-binding domain of APOLIPOPROTEIN B-100 which is a major component of LOW-DENSITY LIPOPROTEINS and VERY-LOW-DENSITY LIPOPROTEINS resulting in reduced clearance of these lipoproteins. (nih.gov)
• Familial hypertriglyceridemia (type IV familial dyslipidemia) is a genetic disorder characterized by the liver overproducing very-low-density lipoproteins (VLDL). (mdwiki.org)

FHBL1

• Results: Review of the literature reveals that FHBL is a genetic disorder frequently, but not always, due to a mutation in the apolipoprotein B (apoB) gene. (jsomonline.org)

Chylomicrons1

• Once in the enterocyte, FFA chains and 2MG compounds are transported to the endoplasmic reticulum, where they are reformed into triglycerides and packaged into chylomicrons in the golgi apparatus to receive chylomicron specific apolipoproteins, namely apo B48, which is a marker for TG chylomicron. (medscape.com)

Dyslipidemia1

• Familial hypertriglyceridemia is considered a type IV familial dyslipidemia it is distinguished from other dyslipidemias based on the individual's lipid profile. (mdwiki.org)

Hypertriglyceridemia6

• Familial hypertriglyceridemia is typically associated with other co-morbid conditions such as hypertension , obesity , and hyperglycemia . (mdwiki.org)
• Familial hypertriglyceridemia falls in the Fredrickson-Levy and Lee's (FLL) phenotypes . (mdwiki.org)
• Familial hypertriglyceridemia separates itself from other dyslipidemias with significantly high triglycerides and low HDL levels. (mdwiki.org)
• Familial hypertriglyceridemia is considered to be inherited in an autosomal dominant manner. (mdwiki.org)
• There are other varying secondary causes of pancreatitis that can further contribute to the primary scenario of pancreatitis related to familial hypertriglyceridemia. (mdwiki.org)
• Treatment for familial hypertriglyceridemia should focus primarily on reducing serum triglyceride levels. (mdwiki.org)

Disorders1

• Secondary hypobetalipoproteinemia may be associated with cancers, liver disease, severe malnutrition, and other wasting disorders. (medscape.com)

Malabsorption1

• Unusually low levels of triglycerides can be present in disease states, producing syndromes of malabsorption in addition to patients who carry genes for familial hypobetalipoproteinemia . (medscape.com)

Mutations1

• Familial broken apolipoprotein B and familial hypobetalipoproteinemia in one family: two neutralizing mutations. (centralparkcarriagesofficial.org)

Liver2

• The nonfamilial forms of hypobetalipoproteinemia are secondary to a number of clinical states, such as occult malignancy, malnutrition, and chronic liver disease. (medscape.com)
• In familial hypobetalipoproteinemia, fatty liver is a characteristic feature, and there are several reports of associated cirrhosis and hepatocarcinoma. (broadinstitute.org)

Results1

• Results that included cases of familial hypobetalipoproteinemia were included. (jsomonline.org)

APOB-Related Familial Hypobetalipoproteinemia2

• APOB-Related Familial Hypobetalipoproteinemia. (medlineplus.gov)
• Individuals with biallelic APOB -related familial hypobetalipoproteinemia ( APOB -FHBL) may present from infancy through to adulthood with a range of clinical symptoms including deficiency of fat-soluble vitamins and gastrointestinal and neurologic dysfunction. (nih.gov)

Homozygous1

• Di Leo E, Magnolo L, Bertolotti M, Bourbon M, Carmo Pereira S, Pirisi M, Calandra S, Tarugi P. Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations. (medlineplus.gov)

Triglycerides3

• These particles consist of a core of cholesterol esters and triglycerides surrounded by a monolayer of free cholesterol, phospholipids, and proteins (apolipoproteins). (medscape.com)
• Apolipoproteins (plasma proteins involved in metabolism of cholesterol, triglycerides, phospholipids, and proteins in the blood) and enzymes involved in lipid metabolism are measured. (nih.gov)
• Unusually low levels of triglycerides can be present in disease states, producing syndromes of malabsorption in addition to patients who carry genes for familial hypobetalipoproteinemia. (medscape.com)

Cholesterol3

• The severity of the condition largely depends on the length of these two versions of apolipoprotein B. Severely shortened versions cannot partner with lipoproteins and transport fats and cholesterol . (medlineplus.gov)
• All of these protein changes lead to a reduction of functional apolipoprotein B. As a result, the transportation of dietary fats and cholesterol is decreased or absent. (medlineplus.gov)
• Oral bempedoic acid also significantly reduced non-HDL cholesterol, total cholesterol, apolipoprotein B, and C-reactive protein levels. (medscape.com)

Metabolism1

• Other apolipoproteins (A, C, D, E, and their subtypes) are soluble and are exchanged between lipoproteins during metabolism. (medscape.com)

Protein1

• This gene provides instructions for making two versions of the apolipoprotein B protein: a short version called apolipoprotein B-48 and a longer version known as apolipoprotein B-100. (medlineplus.gov)

Individuals1

• METHODS:We sequenced the APOB gene in 29 Japanese hypobetalipoproteinemia families as well as 57,973 individuals derived from 12 CHD case-control studies - 18,442 with early-onset CHD and 39,531 controls. (ox.ac.uk)

Clinical1

• The nonfamilial forms of hypobetalipoproteinemia are secondary to a number of clinical states, such as occult malignancy, malnutrition, and chronic liver disease. (medscape.com)