PEDIATRICS Vol. 48 No. 2 August 1971, pp. 225-231
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PURE FAMILIAL HYPERPROLINEMIA: ISOLATED INBORN ERROR OF AMINOACID METABOLISM WITHOUT OTHER ANOMALIES IN A SICILIAN FAMILY

Florindo Mollica M.D.1, Lorenzo Pavone M.D.1, and Ilse Antener M.D.1

1 Department of Pediatrics, University of Catania, Italy; and The Research Laboratory of Nestlé Products, Vevey, Switzerland

Type I hyperprolinemia was detected in several members of a Sicilian family, in which no clinical or biological signs of nephropathy and of other hereditary anomalies were present. A family with similar findings has been reported in 1970 by Fontaine, et al. These two families indicate that hyperprolinemia is probably an inborn error of aminoacid metabolism without clinical implications, which can be inherited as "pure familial hyperprolinemia," independently of other hereditary disorders, by an autosomal and probably recessive gene.

A wide range of serum proline levels (from about 5 to about 25 mg/100 ml) was found in the affected members. It is suggested that even the 0heterozygotes may show some degree of hyperprolinemia.

Submitted on October 8, 1970
Accepted on January 12, 1971