Hypobetalipoproteinemias (Hypobetalipoproteinemia)

Conditions with abnormally low levels of BETA-LIPOPROTEINS (low density lipoproteins or LDL) in the blood. It is defined as LDL values equal to or less than the 5th percentile for the population. They include the autosomal dominant form involving mutation of the APOLIPOPROTEINS B gene, and the autosomal recessive form involving mutation of the microsomal triglyceride transfer protein. All are characterized by low LDL and dietary fat malabsorption.

Also Known As:

Networked: 205 relevant articles (2 outcomes, 19 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Atherosclerosis
2.	Abetalipoproteinemia (Bassen Kornzweig Syndrome)
3.	Fatty Liver
4.	Tangier Disease
5.	Infection

Experts

1.	Tarugi, Patrizia: 18 articles (01/2016 - 01/2004)
2.	Schonfeld, Gustav: 12 articles (06/2011 - 03/2002)
3.	Di Leo, Enza: 11 articles (01/2016 - 01/2004)
4.	Yue, Pin: 11 articles (03/2012 - 03/2002)
5.	Burnett, John R: 10 articles (11/2015 - 04/2003)
6.	Magnolo, Lucia: 8 articles (01/2016 - 12/2007)
7.	Hooper, Amanda J: 7 articles (11/2015 - 07/2006)
8.	Cefalù, Angelo B: 7 articles (03/2015 - 06/2005)
9.	Calandra, Sebastiano: 7 articles (01/2013 - 01/2004)
10.	Barrett, P Hugh R: 6 articles (11/2015 - 10/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hypobetalipoproteinemias:

1.	Apolipoproteins B (ApoB)IBA 09/01/1988 - "This study strongly suggests that apo B mutations underlie hypobetalipoproteinemia, and demonstrates the power of the candidate gene approach in linkage analysis for unraveling genetic determinants in metabolic disorders of undefined etiology." 01/15/2016 - "Homozygosity for a rare missense mutation in the βα1 domain of apoB may be the cause of both severe hypobetalipoproteinemia and intestinal lipid malabsorption. " 06/01/2015 - "Exome sequencing identifies novel ApoB loss-of-function mutations causing hypobetalipoproteinemia in type 1 diabetes." 05/01/2015 - "Here, we describe 2 children with severe hypobetalipoproteinemia found to be homozygous for novel APOB gene mutations. " 11/15/2013 - "Familial hypobetalipoproteinemia: analysis of three Spanish cases with two new mutations in the APOB gene."
2.	Lipoproteins (Lipoprotein)IBA 04/01/2007 - "Postprandial lipoprotein metabolism in familial hypobetalipoproteinemia." 03/01/1997 - "[Lipid and lipoprotein profile of Japanese centenarians--high prevalence of hypo beta lipoproteinemia]." 01/01/1993 - "Familial hypobetalipoproteinemia--differences in lipoprotein structure and composition." 06/01/1992 - "Receptor-dependent and -independent catabolism of low-density lipoprotein in a kindred with familial hypobetalipoproteinemia." 07/01/1984 - "[Longevity syndrome: lipoprotein abnormalities in families of homozygous hyperalphalipoproteinemia and hypobetalipoproteinemia]."
3.	Apolipoprotein B-100 (Apo B 100)IBA 10/01/2004 - "The key clinical, metabolic, and genetic features of familial hypobetalipoproteinemia and familial ligand-defective apoB-100 are described. " 11/01/1993 - "Hypobetalipoproteinemia in many kindreds is associated with truncated forms of apoB-100. " 11/01/1989 - "Krul et al. (1) have identified two truncated species of apolipoprotein B-100 in a kindred with familial hypobetalipoproteinemia. " 07/01/1992 - "To determine the physiologic mechanism responsible for the hypobetalipoproteinemia, in vivo kinetic studies were performed in two affected subjects, using endogenous labeling of apoB-75 and apoB-100 with [13C]leucine followed by multicompartmental kinetic analyses. " 08/01/2002 - "Familial hypobetalipoproteinemia (FHBL) is a genetic disorder characterized by low levels of apoB-100 and LDL cholesterol. "
4.	Lipoprotein Lipase (Diacylglycerol Lipase)IBA 11/01/1985 - "Metabolic studies in these patients confirmed a significant increase in plasma high-density lipoprotein fractions consistent with the diagnosis of hyperalphalipoproteinemia, and a significant reduction in plasma low-density lipoprotein fractions (hypobetalipoproteinemia) associated with a marked enhancement of lipoprotein lipase activity in adipose tissue. " 09/01/1983 - "To study this, the activities of hepatic lipase and lipoprotein lipase were determined in control subjects, in two patients with heterozygous hypobetalipoproteinemia, and in three patients with phenotypic abetalipoproteinemia after administration of heparin. " 09/01/1983 - "Lipoprotein lipase and hepatic lipase activity after heparin administration in abetalipoproteinemia and hypobetalipoproteinemia." 10/01/1993 - "The purpose of this review is to detail this molecular genetic progress for two of the disorders that result in disturbed triglyceride metabolism in infants, lipoprotein lipase deficiency and apo CII deficiency, and four disorders that lead to disturbed cholesterol levels in infancy, abetalipoproteinemia, hypobetalipoproteinemia, familial defective apo B, and familial hypercholesterolemia. "
5.	Apolipoprotein B-48IBA 01/01/1998 - "[Hypo beta-lipoproteinemia with selective deletion of apo B-48]." 11/01/1993 - "Postprandial lipemia in subjects with hypobetalipoproteinemia and a single intestinal allele for apoB-48." 03/01/1998 - "In summary this novel mutation is associated with hypobetalipoproteinemia with a normal fat absorption as expected for a protein with a length similar to that of apo B-48." 03/01/1998 - "Hypobetalipoproteinemia associated with apo B-48.4, a truncated protein only 14 amino acids longer than apo B-48." 11/01/1993 - "Our aims were to assess whether intestinal fat absorption differed from normal in subjects with apoB-truncation-associated hypobetalipoproteinemia and whether fat absorption in heterozygotes with apoB < 48 differed from heterozygotes with apoB > 48. "
6.	ApolipoproteinsIBA 10/01/1996 - "A new apolipoprotein B truncation (apo B-43.7) in familial hypobetalipoproteinemia: genetic and metabolic studies." 07/01/1992 - "ApoB-75, a truncation of apolipoprotein B associated with familial hypobetalipoproteinemia: genetic and kinetic studies." 01/15/2016 - "Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B." 05/01/2015 - "The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations." 03/01/2015 - "Homozygous familial hypobetalipoproteinemia: two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature."
7.	LDL CholesterolIBA 03/01/2007 - "The aim of this study was to assess whether loss of function mutations of PCSK9 were a cause of familial hypobetalipoproteinemia and a determinant of low-plasma low-density lipoprotein cholesterol in whites. " 02/18/1997 - "The aim of this study was to utilize subjects with hypobetalipoproteinemia to examine the relation between thrombotic potential and low levels of LDL cholesterol. " 01/01/2009 - "Familial hypobetalipoproteinemia (FHBL) is a hereditary disorder characterized by decreased plasma concentrations of low-density lipoprotein cholesterol. " 03/01/2007 - "Two familial hypobetalipoproteinemia subjects and 4 hypocholesterolemic blood donors were carriers of the R46L substitution previously reported to be associated with reduced low-density lipoprotein cholesterol as well as other rare amino acid changes (T77I, V114A, A522T and P616L) not found in the other groups examined. " 06/01/1997 - "Our specific aim in a 10-year prospective study of 772 Cincinnati firemen (predominantly aged 26 to 46 years) was to determine the prevalence, attributes, and etiology of persistent hypobetalipoproteinemia, defined by entry low-density lipoprotein cholesterol (LDLC) less than 75 mg/dL. "
8.	Insulin (Novolin)FDA Link 06/01/2015 - "The identification of ApoB loss-of-function mutations in type 1 diabetic patients presents innovative cases to study the interaction between hypobetalipoproteinemia and insulin deficiency." 07/01/2010 - "Subjects with familial hypobetalipoproteinemia (FHBL) have high levels of IHTG because of a genetic defect in hepatic export of triglycerides, and provide a unique cohort to study the relationship between steatosis and insulin sensitivity. " 05/01/2004 - "Fatty liver in familial hypobetalipoproteinemia: roles of the APOB defects, intra-abdominal adipose tissue, and insulin sensitivity." 06/01/2002 - "The following subjects are reviewed: (1) methodology; (2) normal individuals and the effects of aging; (3) diet; (4) hereditary dyslipidemias: familial hypercholesterolemia, familial combined hyperlipidemia, cholesteryl ester storage disease, cholesteryl ester transfer protein deficiency, lipoprotein lipase deficiency, familial hypobetalipoproteinemia, and truncated forms of apoB; (5) hormonal perturbations: estrogen, insulin, diabetes, obesity, and growth hormone; (6) the nephrotic syndrome; and (7) the effects of the statin class of drugs. "
9.	CholesterolIBA 03/01/2012 - "The aim of this work is to define the role of ANGPTL3 gene as determinant of the combined hypolipidemia phenotype in 2 large cohorts of 913 among American and Italian subjects with primary hypobetalipoproteinemia (total cholesterol<5th percentile). " 06/01/2011 - "Primary hypobetalipoproteinemia (pHBL) is characterized by plasma cholesterol levels <5th percentile of a population distribution. " 01/01/2011 - "The parents were asymptomatic with normal plasma cholesterol levels suggesting a recessive disorder and ruling out familial hypobetalipoproteinemia. " 01/01/2007 - "The induction of APOB87SKIP27 expression in vivo should lead to decreased LDL and cholesterol levels, by analogy to patients with hypobetalipoproteinemia. " 11/01/2006 - "4. In two cases of heterozygous familial hypobetalipoproteinemia, serum total cholesterol and betalipoprotein levels were very low. "
10.	Triglycerides (Triacylglycerol)IBA 07/01/2010 - "Subjects with familial hypobetalipoproteinemia (FHBL) have high levels of IHTG because of a genetic defect in hepatic export of triglycerides, and provide a unique cohort to study the relationship between steatosis and insulin sensitivity. " 11/01/1999 - "Decreased production rates of VLDL triglycerides and ApoB-100 in subjects heterozygous for familial hypobetalipoproteinemia." 07/01/1997 - "The patient also had low serum levels of cholesterol and triglycerides and met clinical, biochemical, and familial diagnostic criteria of heterozygous hypobetalipoproteinemia. " 03/01/2002 - "Humans and genetically engineered mice with hypobetalipoproteinemia due to truncation-producing mutations of the apolipoprotein B (apoB) gene frequently have fatty livers, because the apoB defect impairs the capacity of livers to export triglycerides (TGs). " 05/01/2000 - "In vivo metabolism of ApoB, ApoA-I, and VLDL triglycerides in a form of hypobetalipoproteinemia not linked to the ApoB gene."

Therapies and Procedures

1.	Liver Transplantation 07/01/2009 - "Recurrent familial hypobetalipoproteinemia-induced nonalcoholic fatty liver disease after living donor liver transplantation."