Hydroxylysinemia; a disorder due to a defect in the metabolism of free hydroxylysine |
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| Authors: | S I Goodman J A Browder R A Hiles E S Miles |
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| Affiliation: | 1. University of Münster, Department of General Pediatrics, Münster, Germany;2. University of Münster, Department of Pediatric Rheumatology and Immunology, Münster, Germany;1. Division of Medical Genetics and Inserm U1179, University of Versailles, Paris-Saclay University, Montigny, France;;2. Royal Melbourne Hospital, University of Melbourne, Parkville, VIC, Australia;;3. Medical Genetics Service, HCPA, and Department of Genetics, UFRGS, Porto Alegre, Brazil;;4. Department of Nephrology, Hôpital du Sacré-Coeur, University of Montreal, Montreal, QC, Canada;;5. Royal Free NHS Foundation Trust and University College London, London, UK;;6. Department of Pathology, University of Miami, Miller School of Medicine, Miami, FL, USA;;7. Harvard Medical School, Massachusetts General Hospital, Boston, MA, USA;;8. School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA;;9. Amicus Therapeutics, Inc, Cranbury, NJ, USA.;1. Department of Internal Medicine, University Hospital Zurich, University of Zurich, Rämistrasse 100, 8091 Zürich, Switzerland;2. ARCHIMED Life Science, Leberstrasse 20, 1110 Vienna, Austria;3. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA |
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| Abstract: | Studies are reported on a patient with free hydroxylysinemia and hydroxylysinuria. The results indicate the metabolism of appreciable quantities of free hydroxylysine in normal children, and are compatible with a defect in this catabolic pathway in the patient. Although the precise location of the metabolic block is not proved, it is suggested to lie at the level of hydroxy-l-lysine kinase. |
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