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June 2013 

CUHK in Collaboration with JHF Introduces

Newborn Metabolic Screening Program

in Hong Kong


Inborn errors of metabolism (IEM) is a group of diseases caused by genetic defects,leading to failure of production of some essential enzymes for metabolism. The result is the deficiency of certain essential components required for growth and development, or accumulation of toxic substances in the body. Therefore, affected babies and children will suffer from chronic illness, neurological diseases or sudden death.


IEMsare often regarded as ‘orphan diseases’ as are they often ignored by many clinicians as well as governments because they are relatively uncommon (about 1 in 4000 babies). As a result, the diagnosis and treatment of these affected babies and children are often delayed with irreversible damages have already occurred. These adverse outcomes are however potentially preventable nowadays, with accurate and effective screening test performed as early as few days after birth. To this end, The Chinese University of Hong Kong (CUHK) now offers the first newborn metabolic screening program which covers an extensive range of metabolic diseases previously unscreened for in Hong Kong.


This is a collaborative project of three CUHK departments (in alphabetic order: Chemical Pathology, Obstetrics and Gynaecology, and Paediatrics), and is supported by a donation of HK$1,000,000 from The Joshua Hellmann Foundation for Orphan Disease (JHF: http://www.jhforphandisease.org).The screening test targets 30 IEM belonging to amino acid disorders, fatty acid oxidation disorders or organic acid disorders. Only a few drops of blood collected by pricking the baby’s heel are required for testing. The test can be done after completion of oral feeding for 1 day, and up to 7 days of life. Results will be available within in a few days. Parents may call the Hotline (during office hours): 852-26324219 for further enquiry of the service.


CUHK shares the same mission of JHF: ‘to advance the awareness, diagnosis, treatment and research of orphan diseases, and improve the welfare of children with orphan diseases in Hong Kong’, and will set up The Centre of Inborn Errors of Metabolism, to run this screening program, and provide comprehensive care for these affected patients and families, and conduct research to improve the diagnosis and treatment of IEM.