With a generous donation of HK$1 million pledged by 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.

(from left) Dr. Liz Yuet Ping YUEN, Consultant, Department of Chemical Pathology, CUHK; Professor Tak Yeung LEUNG, Professor, Department of Obstetrics and Gynaecology, CUHK; Mrs. Christina Hellmann, Chairman, Joshua Hellmann Foundation for Orphan Disease and Dr. Joannie HUI, Honorary Clinical Assistant Professor, Department of Paediatrics, CUHK introduce the territory’s first screening program for inborn errors of metabolism (IEM) at CUHK.

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 (left 3), Chairman, Joshua Hellmann Foundation for Orphan Disease presents its cheque of donation of HK$1 million pledged for CUHK’s Newborn Metabolism Screening Program to Professor Tak Yeung LEUNG (left 2), Dr. Liz Yuet Ping YUEN (left 1) and Dr. Joannie HUI (left 4).

Dr. Liz Yuet Ping YUEN, Consultant, Department of Chemical Pathology, CUHK, shows the sample filter paper for IEM screening test.

JMrs. 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.’

Dr. Liz Yuet Ping YUEN adds that the screening test for IEM requires only a few drops of blood collected by pricking the baby’s heel and the results will be available within a few days.

(from left) Tandem mass spectrometry and liquid chromatography can process 30 kinds of IEM.

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.’

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