CUHK and Joshua Hellmann Foundation for Orphan Disease Jointly Launch Territory’s First Newborn Metabolic Screening ProgramWith 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.
|Centre of Inborn Errors of
Metabolism CUHK: 2632 4219
|The Joshua Hellmann Foundation
for Orphan Disease: 2297 2484