Normotriglyceridemic abetalipoproteinemia in infancy: an isolated apolipoprotein B-100 deficiency.
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.
D000012:Abetalipoproteinemia / Q000097:blood* / Q000235:genetics / Q000473:pathology; D000050:Acanthocytes / Q000648:ultrastructure; D000328:Adult; D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000172:deficiency*; D001692:Biological Transport; D002851:Chromatography, High Pressure Liquid; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D006801:Humans; D007223:Infant; D008074:Lipoproteins / Q000097:blood / Q000378:metabolism; D008297:Male; D008855:Microscopy, Electron, Scanning; D014280:Triglycerides / Q000097:blood*
D053299:Apolipoprotein B-100; D001055:Apolipoproteins B; D008074:Lipoproteins; D014280:Triglycerides