| Abstract | It is customary to refer to inherited metabolic diseases (IMDs) as rare disorders. However, of the 2000 annual referrals to the Clinical Genetic Service in Hong Kong, almost half were IMDs. Of these, the majority were due to glucose-6-phosphate dehydrogenase deficiency (G-6-PD), a common disorder found among southern Chinese.Hence, as a group, IMDs are not uncommon, but some are over-represented, while the majority are individually rare. Much has been learnt about the genetic implications of these diseases and a genetic approach should be devised for their management. In this article, the author discusses the genetic mechanisms, diagnosis, genetic counselling, screening, prenatal diagnosis, and gene therapy for IMD. |
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