PEDIATRICS Vol. 44 No. 4 October 1969, pp. 554-563
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HYPERPROLINEMIA: CLINICAL AND BIOCHEMICAL FAMILY STUDY

Norman C. Woody M.D.1, C. Harrison Snyder M.D.1, and Judith A. Harris M.D.1

1 Department of Pediatrics, Tulane University, School of Medicine, New Orleans; Charity Hospital of Louisiana, New Orleans; Ochsner Foundation Clinic and Hospital, New Orleans

A term, male neonate, born of a consanguineous marriage, developed progressive organic central nervous system disease in association with hyperprolinemia and iminoaciduria. He died at 3 months of age with bronchopneumonia, mild hydronephrosis, focal acute pyelonephritis, and slight dilatation of the cerebral ventricles. Brain sections showed vacuoles in cerebral and cerebellar white matter and evidence of dysmyelination in the cerebrum.

Members of the family were examined for evidence of nephritis, pyelonephritis, congenital uropathy, and deafness. Significant incidence of each entity was found, with instances about equally distributed between maternal and paternal lines. Markedly elevated serum proline values were observed for the proband and the mother, and moderate elevations were found for the father and for the six other relatives. The pattern of hyperprolinemia in this kindred suggests that it is inherited as an autosomal recessive trait. Data from this and four other families with Type I hyper-prolinemia failed to correlate neurologic disease with elevated serum proline levels.

Submitted on July 25, 1968
Accepted on March 27, 1969




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