PEDIATRICS Vol. 23 No. 4 April 1959, pp. 644-661
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AN INBORN ERROR OF LIPID METABOLISM

John A. Bigler M.D.1, Roland F. Mais M.S.1, Robed M. Dowben M.D.1, and David Yi-Yung Hsia M.D.1

1 Genetic Clinic of the Children's Memorial Hospital; and the Departments of Pediatrics and Medicine, Northwestern University School of Medicine

The present report concerns a new clinical syndrome characterized by hepatomeggaly, retardation of physical and mental growth, and a disturbance of lipids in the plasma.

The abnormalities are present in two siblings born of parents who are second cousins. As far as can be determined, none of the six other siblings is affected.

The disturbance of lipids is characterized by an increase in the concentrations of triglycerides and phospholipids in the plasma with relatively little increase in the concentration of total cholesterol. By means of paper and agar gel electrophoresis, the disturbance has been found to involve primarily an increase in the concentration of alpha2-lipoproteins. Using zone electrophoresis on starch medium, we have shown that there is an increase in concentration of phospholipids and triglycerides in the alpha2-lipoproteins and of triglycerides in the alpha1-lipoproteins. Analytic ultracentrifugation revealed an increase in each of the fractions, but was most marked in the lipoproteins with Sf 20-400.

It would appear that this represents a new third "inborn error of lipid metabolism" in man.

Submitted on August 7, 1958
Accepted on September 12, 1958