Abstract
Electrophoresis of serum from a 8 yr old girl whose fasting cholesterol (C) and triglyceride (TG) levels both range from 25 to 30 mg/dl, shows prebeta and alpha, but not beta lipoprotein (LP). The patient is obese, has moderate ataxia, developmental retardation, and mild stomatocytosis of RBCs but no steatorrhea. Intestinal mucosa was normal 24h after a fat load. Retinoscopy and electroretinograms were normal. Electron microscopy of the d<1.006 g/cm3 ultracentrifugal fraction of fasting serum showed spherical particles of 390 to 2000 Å resembling very low density LP (VLDL). In the low density LP (LDL) interval (d 1.006-1.063) which contained only 0.2 mg/dl of protein, spheres of ∼350 Å with electron-lucent cores, resembling “remnant” particles, and cuboidal particles of ∼220Å were seen. The d 1.21 - 1.063 fraction contained spheres of ∼100 Å, consistent with high density LP. After a fat meal serum TG and C rose to 155 and 36 mg/dl, but there was no increase in LDL. Serum TG rose with carbohydrate feeding also. Although immunoreactivity of the patient's serum with anti-apolipoprotein B (apo-B) is very low (0.2 mg/dl), 35% of VLDL protein is precipitable by tetramethyl-urea (a property of apo-B). The apparent molecular weight of this protein is ∼60% that of normal apo-B on SDS gel electro-phoresis. These data suggest a partial deletion mutation or absent subunit of apo-B. This abnormal apo-B permits secretion of chylomicrons and VLDL which are not converted to normal LDL.
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Malloy, M., Kane, J. & Ammann, A. NORMOTRIGLYCERIDEMIC ABETALIPOPROTEINEMIA - CLINICAL AND BIOCHEMICAL FEATURES OF A NEW SYNDROME. Pediatr Res 11, 519 (1977). https://doi.org/10.1203/00006450-197704000-00894
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DOI: https://doi.org/10.1203/00006450-197704000-00894