Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Environmental influences on familial discordance of phenotype in people with homocystinuria: a case report | Journal of Medical Case Reports BioMed Central Open Access Case report Environmental influences on familial discordance of phenotype in people with homocystinuria a case report Francois Maillot 1 2 Jan P Kraus3 and Philip J Lee1 Address 1Charles Dent Metabolic Unit The National Hospital for Neurology and Neurosurgery Queen Square London UK 2CHRU de Tours Service de Médecine Interne et Nutrition Tours France and 3DNA Diagnostics Laboratory University of Colorado at Denver and Health Sciences Center Aurora USA Email Francois Maillot - maillot@ Jan P Kraus - Philip J Lee - Corresponding author Published 20 April 2008 Received 23 August 2007 Journal of Medical Case Reports 2008 2 113 doi 1752-1947-2-113 Accepted 20 April 2008 This article is available from http content 2 1 1 1 3 2008 Maillot et al licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License http licenses by which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract Introduction Non-heritable factors may have an influence on the clinical expression of monogenic inherited metabolic diseases. Case presentation This is a case report of a man whose mother had been diagnosed late in childhood with pyridoxine responsive homocystinuria with lens dislocation and neurodevelopmental delay. These severe complications were not observed in her son who was pyridoxine unresponsive but who had been treated appropriately since early infancy. Conclusion The phenotype of people with homocystinuria can be discordant within a family with variability in metabolic and clinical expression depending upon both the genotype and therapeutic interventions. Offspring of people with homocystinuria should be screened in early infancy and if positive treated appropriately whether
