Department of Paediatrics and Adolescent Medicine, United Christian Hospital, 130 Hip Wo Street, Kwun Tong, Kowloon, Hong Kong SAR, China
TYS Lui (呂德祐) MRCPCH, MBBS(HK)
GPG Fung (馮寶姿) FHKAM, FHKCPaed
Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, 1 Shing Cheong Road, Kowloon Bay, Kowloon, Hong Kong SAR, China
KM Belaramani MBBS(HK), FHKCPaed, FHKAM
Correspondence to: Dr TYS Lui
Email: lty856@ha.org.hk
Received November 20, 2019
Propionic acidaemia is an inborn error of metabolism classified under the category of organic acidaemias. This disease is caused by the deficiency of propionyl-CoA carboxylase enzyme. Initial presentation can be subtle with subsequent rapid deterioration. Newborn Screening for inborn error of metabolism can provide an early diagnosis and thus prompt treatment can be given, preventing mortality and morbidity.
