Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia

Hammer, Monia; Euch-Fayache, Ghada El; Nehdi, Houda; Feki, Moncef; Maamouri-Hicheri, Wieme; Hentati, Fayçal; Amouri, Rim

doi:10.1016/j.jocn.2013.04.016

Cited by 9 publications

(4 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Vitamin E is thought to be incorporated into CM and transported by lipoproteins in serum. Despite the normal concentration of apoB48 in the patient presented herein, supporting secretion of apoB48-LP from the intestine, her vitamin E plasma concentrations were as low as those reported in other ABL patients in agreement with the very low level of its serum transporter, the LDL [11,13,20,29,42,[48][49][50][51][52][53][54]. However, the normal concentration of vitamin E in red blood cells despite the absence of CM detected after fat load, supports additional mechanisms allowing the saving of vitamin E absorption in the context of vitamin E supplementation under a strict low-fat diet and poorly-lipidated apoB48 secretion.…”

Section: Discussionsupporting

confidence: 78%

Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia

et al. 2019

View full text Add to dashboard Cite

HAL is a multi-disciplinary open access archive for the deposit and dissemination of scientific research documents, whether they are published or not. The documents may come from teaching and research institutions in France or abroad, or from public or private research centers. L'archive ouverte pluridisciplinaire HAL, est destinée au dépôt et à la diffusion de documents scientifiques de niveau recherche, publiés ou non, émanant des établissements d'enseignement et de recherche français ou étrangers, des laboratoires publics ou privés.

show abstract

Section: Discussionsupporting

confidence: 78%

Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia

et al. 2019

View full text Add to dashboard Cite

show abstract

“…Other MTTP splicing mutations have previously been described in abetalipoproteinemia. 11,12 The sister of our proband had a lipid profile similar to the proband and she was also found to be homozygous for MTTP c.394-2A>C. As expected, the parents were heterozygous carriers of the mutation.…”

Section: Discussionsupporting

confidence: 76%

Identification of a novel MTTP splice variant c.394-2A>C in an infant with abetalipoproteinemia

Vidanapathirana¹,

Jasinge²,

Waidyanatha³

et al. 2019

J Rare Dis Res Treat

View full text Add to dashboard Cite

Abetalipoproteinemia (ABL) is a rare autosomal recessive disorder of lipoprotein metabolism caused by mutations in the microsomal triglyceride transfer protein (MTTP) gene. To date, less than 100 cases of ABL have been reported worldwide. It is characterized biochemically by the absence or extremely low levels of low-density lipoproteins in the blood. We report a four-month-old girl, born to consanguineous parents, who presented with steatorrhea, failure to thrive, marked hypolipidemia and acanthocytosis, with a similar history having been noted in her older sibling. DNA sequencing revealed the infant to be homozygous for a novel pathogenic MTTP splice variant c.394-2A˃C. Family screening revealed her sister to be homozygous for the same MTTP variant while her parents were heterozygotes. Early diagnosis and treatment of ABL in the form of a low-fat diet and fat-soluble vitamin supplementation can mitigate neuropathy and retinopathy. We believe that this is the first identification of an infant with a novel mutation for abetalipoproteinemia in Sri Lanka.

show abstract

“…Without early treatment with vitamin E, patients may not survive past the third decade 2,41,43) . Mental retardation has been reported in some cases, although the evidence for causality is lacking 2,17,26) . There might be other domains in the large subunit of MTTP: an N-terminal -barrel domain (amino acids 22-297), which interacts with the N-terminus of apoB; a central -helical domain (298-603), which interacts with apoB as well as PDI; and a C-terminal domain (604-894) 7,[37][38][39] .…”

Section: Genetic and Molecular Basismentioning

confidence: 99%

“…Loss of vitamin E's anti-oxidant activity may cause autohemolysis, by accelerating hydroperoxidation of fatty acids 2) . Decreases in the levels of vitamin K-dependent coagulation factors ( , rare mutations due to consanguinity that could cause mental retardation 2,17) .…”

Section: Symptoms Related To Vitamin Deficienciesmentioning

confidence: 99%

Current Diagnosis and Management of Abetalipoproteinemia

Takahashi

Okazaki

Ohashi

et al. 2021

JAT

View full text Add to dashboard Cite

show abstract

Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia

Cited by 9 publications

References 22 publications

Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia

Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia

Identification of a novel MTTP splice variant c.394-2A>C in an infant with abetalipoproteinemia

Current Diagnosis and Management of Abetalipoproteinemia

Contact Info

Product

Resources

About