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.​

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.

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 after birth. Results are available within in a few days.