Abetalipoproteinemia: A case report

Turkish Journal of Pediatrics

Volumn 43, Issue 3, 2001, Pages 243-245

  Selimoǧlu, Mukadder Ayşe ^a   Eşrefoǧlu, Mukaddes ^a   Gündoǧdu, Cemal ^a   Kiliç, Atilla ^a  

^a ATATURK UNIVERSITY   (Turkey)

Author keywords

Abetalipoproteinemia; Acanthocytosis; Steatorrhea

Indexed keywords

CHOLESTEROL; TRIACYLGLYCEROL;

ABETALIPOPROTEINEMIA; ACANTHOCYTOSIS; ARTICLE; BLOOD; CASE REPORT; CELIAC DISEASE; FAILURE TO THRIVE; HUMAN; INFANT; JEJUNUM; MALE; METABOLISM; PATHOLOGY;

ABETALIPOPROTEINEMIA; ACANTHOCYTES; CELIAC DISEASE; CHOLESTEROL; FAILURE TO THRIVE; HUMANS; INFANT; JEJUNUM; MALE; TRIGLYCERIDES;

EID: 0035406786     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. th ed). St Louis: Mosby; 1995: 354-357.
2. Bassen FA, Kornzweig AL. Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood 1950; 5: 381-387.
3. Sidler AK, Huston BM, Thomas DB. Pathological case of the month. Arch Pediatr Adolesc Med 1997; 151: 1265-1266.
4. Özsoylu S, Koçak N, Gürakan F, Renda N. Abetalipoproteinemia. A case report. Turk J Pediatr 1985; 27: 231-236.
5. Rader DJ, Brewer HB Jr. Abetalipoproteinemia. New insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease. JAMA 1993; 270: 865-869.
6. Wong AMF, Héon E. Helicoid peripapillary chorioretinal degeneration in abetalipoproteinemia. Arch Ophthalmol 1998; 116: 250-251.
7. Runge P, Muller DP, McAllister J, Calver D, Lloyd JK, Taylor D. Oral vitamin E supplements can prevent the retinopathy of abetalipoproteinemia. Br J Ophthalmol 1986; 70: 166-173.
8. Hardie RJ. Acanthocytosis and neurological impairment-a review. QJ Med 1989; 71: 291-306.
9. Muller DP, Lloyd JK, Wolff OH. The role of vitamin E in the treatment of the neurological features of abetalipoproteinemia and other disorders of fat absorption. J Inherit Metab Dis 1985; 8 (Suppl): 88-92.
10. Talmud PJ, Lloyd JK, Muller DP, Collins DR, Scott J, Humphries S. Genetic evidence from two families that the apoprotein B gene is not involved in abetalipoproteinemia. J Clin Invest 1988; 82: 1803-1806.
11. Wetterau JR, Aggerbeck LP, Bouma ME, etal. Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. Science 1992; 258: 999-1001.
12. Ricci B, Sharp D, O'Rourke E, et al. A 30-amino-acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfide-isomerase and causes abetalipoproteinemia. J Biol Chemistry 1995; 270: 14281-14285.
13. Rehberg EF, Samson-Bouma ME, Kienzle B, et al. A novel abetalipoproteinemia genotype. J Biol Chemistry 1996; 271: 29945-29952.
14. Greenwood N. The jejunal mucosa in two cases of abetalipoproteinemia. Am J Gastroenterol 1976; 65: 160-162.