Environmental influences on familial discordance of phenotype in people with homocystinuria: A case report

被引：0

作者：

Maillot F. ^{[1
,2
]}

Kraus J.P. ^{[3
]}

Lee P.J. ^{[1
]}

机构：

[1] Charles Dent Metabolic Unit, The National Hospital for Neurology and Neurosurgery, London, Queen Square

[2] CHRU de Tours, Service de Médecine Interne et Nutrition, Tours

[3] DNA Diagnostics Laboratory, University of Colorado, Denver and Health Sciences Center, Aurora, CO

来源：

Journal of Medical Case Reports | / 2卷 / 1期

关键词：

Pyridoxine; Homocystinuria; R125Q Mutation; Plasma tHcy; Homocystine;

D O I：

10.1186/1752-1947-2-113

中图分类号：

学科分类号：

摘要：

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 they have pyridoxine responsive or unresponsive disease. © 2008 Maillot et al; licensee BioMed Central Ltd.

引用

共 6 条

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[2]

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