PEDIATRICS Vol. 75 No. 3 March 1985, pp. 541-546
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Normotriglyceridemic Abetalipoproteinemia in Infancy: An Isolated Apolipoprotein B-100 Deficiency

Yoshiki Takashima MD1, Tatsuhiko Kodama MD1, Hisaya lida MD1, Masahiko Kawamura MD1, Hiroyuki Aburatani MD1, Hiroshige Itakura MD1, Yasua Akanuma MD1, Fumimaro Takaku MD1, and Masaka Kawade MD1

1 From the Pediatric Clinic, Meijo Hospital, Naka-ku, Nagoya; Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo; and Department of Laboratory Medicine, Faculty of Medicine, Gifu University, Gifu, Japan

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 electro-phoresis, apoprotein B-48 and a faint band corresponding to apoprotein B-100 were detected in the lipoprotein fraction of density < 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 < 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.

Key Words: abetalipoproteinemia • normotriglyceridemic abetalipoproteinemia • apoprotein B-100 • apoprotein B-48

Submitted on October 17, 1983
Accepted on August 1, 1984