Table of Contents

HK J Paediatr (New Series)
Vol 25. No. 1, 2020

HK J Paediatr (New Series) 2020;25:42-44

Case Report

The First Case of Homocystinuria Picked Up by Newborn Screening in Hong Kong: A Case Report

S Ho, J Hui


Abstract

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.

Keyword : Cystathionine beta-synthase deficiency; Homocystinuria; Newborn screening; Pyridoxine unresponsive


Abstract in Chinese

 
 

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