Skip to main content
Device Global Header

Subscribe
or Renew

Advanced Search

This article is available to subscribers. Subscribe now. Already have an account? Sign in

Original ArticleFree PreviewArchive

Familial Hyperprolinemia — Report of a Second Case, Associated with Congenital Renal Malformations, Hereditary Hematuria and Mild Mental Retardation, with Demonstration of an Enzyme Defect

List of authors.
  • Mary L. Efron, M.D.†

HYPERPROLINEMIA is a familial disorder characterized by elevation of the plasma proline concentration and in some cases by an aminoaciduria consisting of increased excretion, not only of proline but also of hydroxyproline and sometimes glycine.1 , 2 Only 1 family with the disorder has been reported in the literature to date. In that family multiple disorders were present both in hyperprolinemic and in nonhyperprolinemic members. It was therefore impossible to determine whether there was any relation between the clinical findings and the biochemical defect.Another family with hyperprolinemia has now been studied; many members of this second family had renal disease of . . .

Funding and Disclosures

* From the Laboratory for Clinical Genetics, Children's Hospital Medical Center, the Joseph P. Kennedy, Jr., Memorial Laboratories of the Neurology Service, Massachusetts General Hospital, and the departments of Pediatrics and Neurology, Harvard Medical School.

Supported in part by grants from the United States Public Health Service (HE-04706 and NB-05096) and by the John A. Hartford Foundation.

I am indebted to Dr. Allan Perlmutter, who sent the patient's urine for chromatography and who collected the first blood sample, to Dr. Harry Shwachman and Miss Barbara Williams, who performed the first chromatogram and detected the aminoaciduria, to Dr. Harold J. Strecker, of the Albert Einstein Medical School, who has given much help with the enzyme studies over several years and donated rare chemicals, to Drs. T. H. Wilson, F. Rosen and H. Moser, who loaned equipment for radioisotope studies, to Drs. L. K. Diamond and P. S. Gerald, who gave generously of their time and support, to the visiting and house staffs on the medical service and to Dr. G. Dammin and his associates in the Department of Pathology, Peter Bent Brigham Hospital, without whose wholehearted interest and co-operation the study could not have been completed.

Author Affiliations

Boston

† Assistant in neurology and assistant biochemist, Neurology Service, Massachusetts General Hospital; research associate in neurology, Harvard Medical School; formerly, research associate in pediatrics, Children's Hospital Medical Center.

Print Subscriber? Activate your online access.