P R E S S   R E L E A S E

Majority of sudden infant deaths does not have a pathologic cause and knowledge of the problem is limited.  Genetic research led by Professor Nelson TANG Leung-Sang at the Department of Chemical Pathology and Professor Patrick YUEN Man-Pang at the Department of Paediatrics of The Chinese University of Hong Kong has successfully identified a genetic disease which could cause sudden infant deaths. The finding was reported in a recent issue of a major genetic journal Human Molecular Genetics. 

Primary carnitine deficiency is a genetic disease, which shows no apparent symptoms in either the parent or the infant. However, the affected child is threatened with the danger of sudden death before the age of one. Cardiomyopathy may develop in their later childhood. This disease has been reported in 40 families worldwide and three of these are Chinese families. 

Carnitine is essential to human for the transportation of lipid which is required for generation of energy in cells.  Carnitine deficiency impairs energy generation. 

This disease was first brought to the attention of Professor Yuen when he was called to be an expert witness in a Coroner's inquest, in which an one-year-old girl died shortly after admission to a local hospital. Another child of the family died unexpectedly when he was six months old. Intensive research was then carried out in CUHK. Primary Carnitine Deficiency was diagnosed as the cause for the sudden death in both children.  This was the first  case of Primary Carnitine Deficiency in Hong Kong. 

Further research in CUHK and The Medical College of Georgia achieved a major breakthrough in this genetic disease early this year. A gene associated with primary carnitine deficiency, now called 0CTN2 was identified. Mutations in 0CTN2 lead to this life-threatening disease. Now, early genetic diagnosis of affected child is possible and appropriate treatments can be provided well in advance. 

The research team at the Department of Paediatrics and Department of Chemical Pathology will continue its efforts to research this disease and other cases of sudden infant death in Hong Kong. 

With increased awareness and the development of more advanced biochemical investigations, increasing number of infants and children with inherited metabolic diseases as such are being diagnosed in Hong Kong.  The Chinese University of Hong Kong has set up the first specialty clinic in Hong Kong for Inherited Metabolic Diseases at the Prince of Wales Hospital. More than 30 patients with different metabolic diseases have been diagnosed, some of these are the first to be reported among the Hong Kong Chinese population. 

Most of these inherited metabolic diseases are not curable.  However, prenatal diagnosis and genetic analysis will enable early diagnosis and treatment in this group of patients.