Describes the clinical and biochemical phenotype of congenital absence of beta-lipoproteins as an autosomal recessive inborn error of metabolism.
May aid diagnosis of abetalipoproteinemia in children with malabsorption and ataxia; leaves open need for targeted therapies.
From the two cases reported and a review of the literature, we conclude that congenital absence of beta-lipoproteins is an inborn eror of metabolism The outstanding features are a celiac syndrome with severe impairment of fat absorption, retardation of physical and mental growth, neurological ataxia, atypical retinitis pigmentosa, acanthocytosis, and finally, absence of beta-lipoproteins, depletion of alpha-lipoproteins, and a very low level of blood cholesterol, phospholipid, and total lipids. The condition manifests itself in homozygotes as a mutant autosomic gene. Heterozygotes could not be detected in either case.
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Lamy et al. (1963) studied this question.
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