ABSTRACT
AIM: The purpose of this study was to compare the rate of diagnosis of inborn errors of intermediary metabolism (IEMs) in New Zealand in the 3 years before and after the commencement of expanded newborn screening (ENBS) in December 2006 METHOD: The cases diagnosed during the period January 2004 to December 2006 were compared to a subsequent cohort, December 2006-December 2009, when ENBS was available in NZ RESULTS: The total number of patients diagnosed in the 3 years prior to the introduction of EBNS was 15. In the following 3 years 42 cases were diagnosed. Thirty cases were diagnosed by ENBS. Two were diagnosed after investigation of older siblings in the families of the EBNS cases. Seven cases presented clinically with IEMs either because they had conditions that are not detectable with EBNS or they presented as older children born prior to December 2006. Three cases of carnitine-acylcarnitine translocase deficiency (CACT) presented on day 1 with symptoms and were diagnosed prior to the day 2 sample for EBNS being obtained. CONCLUSION: ENBS has resulted in an increase in the number of patients diagnosed with IEMs in New Zealand.
