Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia

Najah, Mohamed; Leo, Enza Di; Jelassi, Awatef; Magnolo, Lucia; Imene, Jgurim; Pinotti, Enrico; Mahjoub, B.; Barsaoui, Sihem; Brini, Inès; Fekih, M.; Slimane, Mohamed Naceur; Tarugi, Patrizia

doi:10.1016/j.cca.2008.11.012

Cited by 26 publications

(25 citation statements)

References 39 publications

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“…In contrast, ABL and homozygous FHBL, which share common clinical manifestations, are associated with severe phenotypic appearance (Fig. 2) [80,88]. …”

Section: Phenotypic Features: Fhbl and Ablmentioning

confidence: 89%

“…(Fig. 2) Homozygous FHBL and ABL patients almost invariably manifest symptoms of intolerance to fat rich meals, fat malabsorption (diarrhea, steatorrhea) and failure to thrive early in childhood [80,88,96,97]. Considering homozygous FHBL and ABL in the differential diagnosis of failure to thrive in childhood is of particular importance, since they can easily misdiagnozed as celiac disease.…”

Section: Fhbl Heterozygotesmentioning

confidence: 96%

“…In contrast, in ABL (recessively inherited) parent lipid levels are normal. In both disorders a frequent finding is parents consanguinity [88].…”

Section: Diagnosismentioning

confidence: 99%

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Hypocholesterolemia

Moutzouri¹,

Elisaf²,

Liberopoulos

2011

CVP

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Hypocholesterolemia is defined as total cholesterol (TC) and low density cholesterol (LDL-C) levels below the 5(th) percentile of the general population adjusted for age, gender and race. Hypocholesterolemia may be attributed to inherited disorders or several secondary causes. Inherited forms of hypocholesterolemia consist of a group of rare diseases. The best studied are familial hypobetalipoproteinemia (FHBL) and abetalipoproteinemia (ABL). Clinical diagnosis rests on lipid levels and the pattern of inheritance after secondary causes are excluded. Patients with primary hypobetalipoproteinemias may manifest a variety of symptoms and signs affecting several organs (steatorrhea, neurological and ophalmological symptoms, non-alcoholic fatty liver disease) or be asymptomatic. Understanding hypocholesterolemia and the underlying molecular basis is of crucial importance since this may provide new insights in the treatment of hypercholesterolemia and cardiovascular disease.

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“…In contrast, ABL and homozygous FHBL, which share common clinical manifestations, are associated with severe phenotypic appearance (Fig. 2) [80,88]. …”

Section: Phenotypic Features: Fhbl and Ablmentioning

confidence: 89%

Section: Fhbl Heterozygotesmentioning

confidence: 96%

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Hypocholesterolemia

Moutzouri¹,

Elisaf²,

Liberopoulos

2011

CVP

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“…In other cases, the functional consequences have been diffi cult to predict (13)(14)(15), even if the mutations cosegregate with a clinical phenotype. The measurement of MTP activity ( 2,3,6,11,13,16,17 ) and the consequence of intronic mutations ( 9,11 ) have been studied in only a few cases due to the necessity of additional intestinal or hepatic biopsies.…”

Section: Protein Expressionmentioning

confidence: 99%

Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia

Filippo

Crehalet

Samson-Bouma

et al. 2012

Journal of Lipid Research

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“…A 4-year-old Tunisian girl was born from consanguineous parents ( 121 ). She had a long history of diarrhea, intolerance to fat-rich meals, and marked hypolipidemia ( Table 4 ).…”

Section: Apob-specifi C Fhbl Clinically Fhbl ([Omim #107730]mentioning

confidence: 99%

Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk

Calandra

Tarugi

Speedy

et al. 2011

Journal of Lipid Research

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This review covers the dietary and biochemical origins and fates of key classes of sterol molecules in humans, namely, cholesterol and the relatively under-recognized and often unappreciated noncholesterol sterols and stanols; the intra-and intercellular systems that govern their transport; and the contribution of innate genetic programs to the biochemically observed levels of plasma LDL-cholesterol (LDL-C). The reasons for these foci are both biological and medical. The former is the burgeoning knowledge of the normal physiological roles that cholesterol performs within cell membranes in supporting receptor-mediated signaling activities ( 1-4 ), the movement of diverse molecules through different membranebound compartments (5)(6)(7)(8), and multiple other cell functions (9)(10)(11), including myelination ( 12 ). The latter, Abstract This review integrates historical biochemical and modern genetic fi ndings that underpin our understanding of the low-density lipoprotein (LDL) dyslipidemias that bear on human disease. These range from life-threatening conditions of infancy through severe coronary heart disease of young adulthood, to indolent disorders of middle-and oldage. We particularly focus on the biological aspects of those gene mutations and variants that impact on sterol absorption and hepatobiliary excretion via specifi c membrane transporter systems ( NPC1L1 , ABCG5/8 ); the incorporation of dietary sterols ( MTP ) and of de novo synthesized lipids ( HMGCR, TRIB1 ) into apoB-containing lipoproteins ( APOB ) and their release into the circulation ( ANGPTL3, SARA2, SORT1 ); and receptor-mediated uptake of LDL and of intestinal and hepatic-derived lipoprotein remnants ( LDLR, APOB, APOE, LDLRAP1, PCSK9, IDOL ).The insights gained from integrating the wealth of genetic data with biological processes have important implications for the classifi cation of clinical and presymptomatic diagnoses of traditional LDL dyslipidemias, sitosterolemia, and newly emerging phenotypes, as well as their management through both nutritional and pharmaceutical means. -Calandra, S., P. Tarugi Abbreviations: ABCG5, ATP-binding cassette, subfamily G, member 5; ABCG8, ATP-binding cassette, subfamily G, member 8; ABL, abetalipoproteinemia; ADH, autosomal dominant hypercholesterolemia; ANGPTL3, angiopoietin-like 3; ARH, autosomal recessive hypercholesterolemia; BMI, body mass index; CAC, coronary artery calcifi cation; CAD, coronary artery disease; CHD, coronary heart disease; CMRD, chylomicron retention disease; CYP7A1 , cholesterol 7 ␣ -hydroxylase; EGF, epidermal growth factor; ER, endoplasmic reticulum; FCHL, familial combined hyperlipidemia; FDB, familial defective apoB; FH, familial hypercholesterolemia; FHBL, familial hypobetalipoproteinemia; GWAS, genome-wide association study; HMGCR, HMGCoA reductase; IDOL, inducible degrader of LDLR; LD, linkage disequilibrium; LDL-C, LDL-cholesterol; LDLR, LDL receptor; LRP1, LDLRAP1, LDLR-associated protein 1; LDLR-related protein 1; LXR, liver X receptor; MI, myocardial infarction; MTP, m...

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Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia

Cited by 26 publications

References 39 publications

Hypocholesterolemia

Hypocholesterolemia

Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia

Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk

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