Overview of common inherited metabolic diseases in a Southern Chinese population of Hong Kong

Background: The Joint metabolic clinic at the Prince of Wales Hospital was established in January 1997 to provide a comprehensive multi-disciplinary c are to patients with inherited metabolic diseases (IMDs). Patients are refe rred from both within and outside our hospital. Until July, 2000, mote than 40 patients and families with 20 different biochemical diagnoses attend th e clinic for regular follow up. A pattern of more common IMDs among Hong Ko ng Chinese emerged from our case registry. In order to advance the understa nding of Chinese metabolic diseases, we examined the molecular basis of tho se diseases with unique features in Chinese or were locally prevalent. Muta tions were found in patients with primary carnitine deficiency, ornithine t ranscarbamylase deficiency, X-linked adrenoleukodystrophy, glutaric aciduri a type I, and galactosemia. We also analyzed the mutations in multiple carb oxylase deficiency and Niemann-pick type C on four families. Conclusions: A lthough IMDs are a significant cause of mortality and morbidity among pedia tric patients, with a better understanding of the molecular genetics of the se diseases, prenatal diagnosis of these common IMDs will be facilitated, w hich is currently the most effective way of controlling IMDs. (C) 2001 Else vier Science B.V. All rights reserved.