Genetic aspects of inherited metabolic diseases

STS Lam
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.

Hong Kong Med J 1996;2:285-91

Key words: Metabolism, inborn errors; Genetic counseling, screening; Genetic screening; Prenatal diagnosis; Gene therapy