PEDIATRICS Vol. 31 No. 2 February 1963, pp. 277-289
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CONGENITAL ABSENCE OF BETA-LIPOPROTEINS

M. Lamy M.D.1, J. Frézal M.D.1, J. Polonovski M.D.1, G. Druez M.D.1, and J. Rey M.D.1

1 Clinique de Génétique Médicale, et Laboratoire de Biochimie, de la Faculté de Médecine de Paris

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.

Submitted on July 15, 1961
Accepted on May 24, 1962