Our unit is the principal provider of specialist child metabolic medicine services for Hong Kong. We see patients from birth to 18 years of age with suspected or inherited metabolic disorders (IMD), also known as inborn errors of metabolism (IEM). Our team consists of paediatricians, specialty nurses and dietitians, and we work closely with other HKCH teams and departments to deliver high quality, professional and efficient multi-disciplinary care to children and their families with IMD.

We provide comprehensive diagnosis and management for IMD conditions with reference to the International Classification of Inherited Metabolic Disorders (ICIMD) published in 2021. In addition to the standard medical and dietary therapies, some patients may require more complex treatment modalities like enzyme replacement therapy, haematopoietic stem cell or liver transplantation. We work closely with the transplant teams to ensure the delivery of such treatments for patients in need.

We accept patient referrals by public hospitals and the private sector. We also provide consultation to HKCH patients under the care of other teams and departments.

Metabolic outpatient clinic sessions are held regularly for both new referrals and follow-up cases. We provide consultative diagnostic service as well as ongoing clinical and dietary care for children and their families. Patient review meetings among clinicians, nurses and dieticians are held before the clinic sessions. If needed, specialists from various teams and departments will also participate in in-depth discussion on the care of individual patients.

Newborn screening is an essential preventive health scheme for the early detection of IMD, which if left unrecognized, may lead to potential serious health and developmental problems.

The Hospital Authority newborn screening programme now includes 30 IMD, covering all babies born in the eight public hospitals with an obstetric unit. Through a pilot programme, the service is gradually expanded to babies born in private hospitals.

The HKCH Metabolic Medicine team works closely with all the paediatric and obstetric departments under the Hospital Authority, the HKCH Department of Clinical Genetics, and the Newborn Screening Laboratory of the HKCH Department of Pathology in order to deliver an effective, efficient, well-coordinated and seamless newborn screening service.