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  • Title: Normotriglyceridemic abetalipoproteinemia in infancy: an isolated apolipoprotein B-100 deficiency.
    Author: Takashima Y, Kodama T, Iida H, Kawamura M, Aburatani H, Itakura H, Akanuma Y, Takaku F, Kawade M.
    Journal: Pediatrics; 1985 Mar; 75(3):541-6. PubMed ID: 3975124.
    Abstract:
    The plasma lipoproteins of a 1-year-old Japanese infant were studied because of malnutrition, severe decrease in plasma lipid level, and acanthocytosis. Plasma lipoprotein analysis revealed that low-density lipoproteins were deficient; however, low levels of triglyceride-rich lipoproteins were found in the plasma. On sodium dodecylsulfate (SDS) polyacrylamide gel electrophoresis, apoprotein B-48 and a faint band corresponding to apoprotein B-100 were detected in the lipoprotein fraction of density less than 1.006 g/mL when the infant was 6 months old. Apoprotein B-48 was more clearly detected after 1 year, but the band corresponding to apoprotein B-100 on the sodium dodecylsulfate gel electrophoresis had disappeared. The apoprotein B-48 content of the fraction with density less than 1.006 g/mL was about 0.05 to 0.3 mg/dL. The patient's lipoproteins consisted mainly of high-density lipoproteins. These results suggest that the disorder in this patient is caused by apoprotein B-100 deficiency.
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