Hydroxyprolinaemia with normal development.
- 1 June 1980
- journal article
- case report
- Published by BMJ in Archives of Disease in Childhood
- Vol. 55 (6) , 484-486
- https://doi.org/10.1136/adc.55.6.484
Abstract
A 6th case of hydroxyprolinaemia is described. The response to an oral hydroxyproline load failed to demonstrate an abnormal response in a presumed heterozygote. The infant is developing normally at age 36 months and we agree with others that this aminoacidaemia is benign.Keywords
This publication has 8 references indexed in Scilit:
- Hydroxyprolinemia: a case report.1974
- Collagen polysomes: Site of hydroxylation of proline residuesJournal of Molecular Biology, 1971
- Hydroxyprolinemia* an Apparently Harmless Familial Metabolic DisorderNew England Journal of Medicine, 1970
- Renal tubular transport of proline, hydroxyproline, and glycineJournal of Clinical Investigation, 1968
- Catabolism and Excretion of Free Hydroxyproline in Infancy1Journal of Clinical Endocrinology & Metabolism, 1967
- HydroxyprolinemiaNew England Journal of Medicine, 1965
- METABOLISM OF GAMMA-HYDROXYGLUTAMIC ACID .1. CONVERSION TO ALPHA-HYDROXY-GAMMA-KETOGLUTARATE BY PURIFIED GLUTAMIC-ASPARTIC TRANSAMINASE OF RAT LIVER1962
- New Renal Tubular Amino-Acid Transport System and a New Hereditary Disorder of Amino-Acid MetabolismNature, 1961