Clinical Genetic Service, Department of Health, Hong Kong SAR, China
S Ho (何嘉倫) MBChb, MRCPCH, FRCPH
Metabolic Medicine, Hong Kong Children's Hospital, 1 Shing Cheong Road, Kowloon Bay, Kowloon, Hong Kong SAR, China
J Hui (許鍾妮) MBBS(NSW), MRCP(UK), FHKAM(Paediatrics)
Correspondence to: Dr S Ho
Email: stephanie_kl_ho@dh.gov.hk
Received June 11, 2019
Classical homocystinuria is a rare metabolic disease among the local Chinese population. We report a case of pyridoxine non-responsive classical homocystinuria who was picked up by the Hong Kong government's territory wide newborn screening programme which was started in 2015.
