JHF logo
CUHK and Joshua Hellmann Foundation for Orphan Disease Jointly Launch Territory’s First Newborn Metabolic Screening Program
With a generous donation of HK$1 million from the Joshua Hellmann Foundation for Orphan Disease (JHF), The Chinese University of Hong Kong (CUHK) launches the territory’s first screening program for inborn errors of metabolism (IEM) in Hong Kong. About 1 in 4,000 Hong Kong babies is affected by IEM, which are caused by genetic defects leading to failure to produce certain essential enzymes for metabolism. Affected babies will suffer from major chronic illnesses including mental retardation, and death may result in serious cases. The relatively uncommon diseases without obvious symptoms are likely to be overlooked by clinicians and governments, and are thus also known as ‘orphan diseases’. Irreversible damages may arise from delayed diagnosis and treatment. The departments of Chemical Pathology, Obstetrics and Gynaecology, as well as Paediatrics have jointly developed the first newborn metabolic screening program in Hong Kong. The program can test 30 kinds of IEM including amino acid disorders, fatty acid oxidation disorders and organic acid disorders. The test requires only a few drops of blood collected by pricking the baby’s heel, and can be done 1 day after oral feeding has started, and within 7 days after birth. Results will be available within a few days. Mrs. Christina Hellmann, the Founder of JHF said, ‘JHF-Newborn Metabolic Screening Program is a milestone in advancing awareness, diagnosis, treatment and research of orphan diseases in Hong Kong. This is an essential step towards eventually establishing Hong Kong’s own diagnostic and treatment centre for orphan diseases. The timing of this launch could not be more ideal with Hong Kong’s first children’s hospital slated to be opened in 2018.’ Professor Tak Yeung LEUNG of the Department of Obstetrics and Gynaecology at CUHK said, ‘IEM have not been screened in Hong Kong previously. Once the affected babies are identified, treatment such as diet adjustment and/or drug treatment can be started as early as possible to minimize the impact IEM will pose on the babies.’ CUHK will establish the Centre of Inborn Errors of Metabolism in July 2013 which will offer this screening program. The Centre aims to provide comprehensive care for affected patients and their families and conduct research to improve the diagnosis and treatment of IEM. For enquiries about this service, please call the following hotlines during office hours:
Centre of Inborn Errors of
Metabolism CUHK: 2632 4219
The Joshua Hellmann Foundation
for Orphan Disease: 2297 2484