DOI: https://dx.doi.org/10.18203/2349-3933.ijam20220794
Published: 2022-03-24

A rare case of abetalipoproteinemia

Dheeraj Agarwal, Supriya Barsode, Dadasaheb G. Maindad, Nihal Uday Shah, Apurva Ajay Maindarkar, Vijay S. Kulkarni

Abstract


The disease studied here abetalipoproteinemia (ABL) is a very rare autosomal recessive disorder which is caused by microsomal triglyceride alteration in protein gene mutation. ABL is defined by a lack of lipids and apolipoprotein B in the plasma, as well as fat malabsorption and a variety of clinical symptoms. We report a 21-year-old male with a history of persistent diarrhea, steatorrhea, and growth retardation who was born to consanguineous parents. The patient was diagnosed with ABL and was treated with dietary changes and fat-soluble vitamin replacement, as well as being monitored on an outpatient basis.


Keywords


Apolipoprotein B, ABL, Fat malabsorption, Steatorrhea, Growth retardation

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References


Sobrevilla LA, Goodman ML, Kane CA. Demyelinating central nervous system disease, macular atrophy and acanthocytosis (Bassen-Kornzweig syndrome) Am J Med. 1964;37:821-8.

Pons V, Rolland C, Nauze M, Danjoux M, Gaibelet G, Durandy A et al. A severe form of Abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP) Human Mutation. 2011;32:751-9.

Rahalkar AR, Hegele RA. Monogenic pediatric dyslipidemias: Classification, genetics and clinical spectrum. Mol Genet and Metab. 2008;93:282-94.

Uslu N, Gurakan F, Yuce A, Demir H, Tarugi P. Abetalipoproteinemia in an infant with severe clinical phenotype and a novel mutation. Turk J Pediat. 2010;52:73-7.

Bassen FA, Kornzweig AL. Malformation of the erythrocytes in a case of atypical retinispigmentosa. Blood. 1950;5:381-7.

Salt HB, Wolff OH, Lloyd JK, Fosbrooke AS, Cameron AH, Hubble DV. On having no beta-lipoprotein: A syndrome comprising a-beta-lipoproteinaemia, acanthocytosis, and steatorrhoea. Lancet. 1960;2:325-9.

Berriot-Varoqueaux N, Aggerbeck LP, Samson-Bouma ME, Wetterau JR. The role of the triglyceride transfer protein in abetalipoproteinemia. Annu Rev Nutr. 2000;20:663-97.

Zamel R, Khan R, Pollex RL, Hegele RA. Abetalipoproteinemia: two case reports and literature review. Orphanet J Rare Dis. 2008;3:19.

Di Filippo M, Créhalet H, Samson-Bouma ME, Bonnet V, Aggerbeck LP, Rabès JP et al. Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia. J Lipid Res. 2012;53:548-55.

Segal S, Sharma S. Atypical retinitis pigmentosa and progressive ataxic neuropathy. Can Fam Physician. 2005;51:1079-86.

Chardon L, Sassolas A, Dingeon B, Michel-Calemard L, Bovier-Lapierre M, Moulin P et al. Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases. Eur J Pediatr. 2009;168:983-9.

Runge P, Muller DP, McAllister J, Calver D, Lloyd JK, Taylor D. Oral vitamin E supplements can prevent the retinopathy of abetalipoproteinaemia. Br J Ophthalmol. 1986;70:166-73.

Chowers I, Banin E, Merin S, Cooper M, Granot E. Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients. Eye. 2001;15:525-30.

Bishara S, Merin S, Cooper M, Azizi E, Delpre G, Deckelbaum RJ. Combined vitamin A and E therapy prevents retinal electrophysiological deterioration in abetalipoproteinaemia. Br J Ophthalmol. 1982;66:76770.

Grise P, Le Luyer B, Mitrofanoff P. Oxalate lithiasis associated with abetalipoproteinemia: Report of a case. Chir Pediatr. 1983;24:411–-2.

Al-Mahdili HA, Hooper AJ, Sullivan DR, Stewart PM, Burnett JR. A mild case of abetalipoproteinaemia in association with subclinical hypothyroidism. Ann ClinBiochem. 2006;43:516-9.

Collins JC, Scheinberg IH, Giblin DR, Sternlieb I. Hepatic peroxisomal abnormalities in abetalipoproteinemia. Gastroenterology. 1989;97:766-70.