Hong Kong Med J 1996;2:285-91 | Number 3, September 1996
SEMINAR PAPERS--INHERITED METABOLIC DISEASES
Genetic aspects of inherited metabolic diseases
Clinical Genetic Service, Department of Health, Cheung Sha Wan Jockey Club Clinic, 2/F, 2 Kwong Lee Road, Sham Shui Po, Kowloon, Hong Kong
As a group, inherited metabolic diseases are commonly considered rare disorders. However, some are exceptionally common in specific human populations. Different approaches are therefore required to manage this heterogeneous group of conditions. In this article, the genetic aspects of inherited metabolic diseases are described. These aspects include genetic mechanisms, diagnosis, genetic counselling, screening, prenatal diagnosis, and gene therapy.
Key words: Metabolism, inborn errors; Genetic counseling, screening; Genetic screening; Prenatal diagnosis; Gene therapy
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