Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia

Khatun, Irani; Walsh, Meghan T.; Hussain, M. Mahmood

doi:10.1194/jlr.m031658

Cited by 42 publications

(69 citation statements)

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“…Summary of the clinical characteristics and the results of laboratory tests of the three patients with ABL are shown in Tables 1 and 2. Discussion ABL is a rare autosomal recessive disorder caused by mutations in the MTP encoding gene [1,6,[8][9][10]13]. Many mutations were identified in the MTTP gene in patients with ABL [5].…”

Section: Casementioning

confidence: 99%

“…It includes three structural and three functional domains [4,6]. It facilitates the lipid transfer onto Apo B, which is the main structural protein component of LDL and VLDL [6,13,14]. The complete absence of MTP functions is the most common biochemical defect that is shared by most of ABL patients [2,3,6].…”

Section: Casementioning

confidence: 99%

“…Patients with ABL are usually asymptomatic at birth but they develop gastrointestinal symptoms during infancy [4,6]. In infancy, the diagnosis is usually made secondary to failure to thrive [3,4,10,13]. Gastrointestinal manifestation of ABL includes diarrhea, steatorrhea, chronic fat and fat-soluble vitamins malabsorption resulting in failure to thrive and deficiency of fat-soluble vitamins [2,4,[6][7][8][9][10]14].…”

Section: Casementioning

confidence: 99%

“…In a newborn with poor weight gain and unexplained diarrhea, studying lipid profile is important to diagnose ABL, especially if the parents are consanguineous [2]. In ABL patients, the plasma total cholesterol (TC) and TG levels are extremely low while ApoB-containing lipoproteins are almost absent [3][4][5][9][10][11]13]. ABL heterozygous parents exhibits normal plasma cholesterol compared to those of hypobetalipoproteinemia (HBL) patients where the plasma cholesterol levels are half normal [5,6,9,14,15].…”

Section: Casementioning

confidence: 99%

“…Cases were reported from different countries like USA, Canada, Italy, France, Turkey, Iran, India, Japan, Tunisia and Australia. Homozygous patients with ABL presented with a wide range of clinical features [2][3][4][12][13][14]. Most of ABL patients are diagnosed late between the 2nd and the 4th decades and only few of them in the 1st decade of life [4][5][6][7].…”

Section: Casementioning

confidence: 99%

See 4 more Smart Citations

Abetalipoproteinemia: Three Case Reports, a Novel Microsomal Triglyceride Transfer Protein Gene Mutation and a Literature Review

Isa¹,

Mohamed²

2016

J Clin Case Rep

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Abetalipoproteinemia (ABL, OMIM 200100) is a very rare metabolic disease with reported prevalence of less than one case per 100,000. It is an autosomal recessive disease resulting from mutations in the gene encoding microsomal triglyceride transfer protein (MTP). Affected patients present with a wide range of clinical symptoms during infancy. Typical manifestations are failure to thrive, low level of cholesterol and fat malabsorption. Other features like fatty liver, acanthocytosis and anemia are usually present. Low fat diet and fat-soluble vitamins are the main stay of therapy. This is a retrospective review of three patients admitted to Salmaniya medical complex (SMC), Bahrain, with ABL. We presented the clinical presentations, diagnosis, response to medical therapy and outcome of these three infants along with a literature review about ABL. A novel MTP gene mutation, c.1508_1515delTGGCTACC (p.Leu503Hisfs*7, exon 11, MTTP), was detected. Two patients responded to dietary modifications and one deceased.

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