Abstract
WE have investigated the metabolism of amino-acid in a kindred with familial nephritis and deafness. Renal hypoplasia and photogenic epilepsy, both familial, and a third independent familial disorder affecting L-proline metabolism were also found in this kindred. Familial nephropathy with deafness was recently reviewed1, but its occurrence with these disorders was not described.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 51 print issues and online access
$199.00 per year
only $3.90 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Marie, J., et al., Annales de Pediatrie, 36, 84 (1960).
Dent, C. E., in Recent Advances in Clinical Pathology, second ed., 238 (Churchill, 1951).
Efron, M. L., Biochem. J., 72, 691 (1959).
Moore, S., and Stein, W. H., J. Biol. Chem., 211, 893 (1954).
Moore, S., Spackman, D., and Stein, W. H., Anal. Chem., 30, 1185 (1958).
Cusworth, D. C., and Dent, C. E., Biochem. J., 74, 550 (1960).
Efron, M. L., and Scriver, C. R. (unpublished results).
Jagenburg, O. R., Scand. J. Clin. Lab. Invest., 11, Supp. 43 (1959).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
SCRIVER, C., SCHAFER, I. & EFRON, M. New Renal Tubular Amino-Acid Transport System and a New Hereditary Disorder of Amino-Acid Metabolism. Nature 192, 672–673 (1961). https://doi.org/10.1038/192672a0
Issue Date:
DOI: https://doi.org/10.1038/192672a0
This article is cited by
-
PRODH variants and risk for schizophrenia
Amino Acids (2008)
-
Hyper prolinuria and hyper-hydroxy prolinuria in children with mental retardation
Indian Journal of Clinical Biochemistry (2003)
-
Type I hyperprolinemia
The Indian Journal of Pediatrics (2000)
-
Mitochondrial proline dehydrogenase deficiency in hyperprolinemic PRO/Re mice: Genetic and enzymatic analyses
Biochemical Genetics (1976)
Comments
By submitting a comment you agree to abide by our Terms and Community Guidelines. If you find something abusive or that does not comply with our terms or guidelines please flag it as inappropriate.