RESUMO
OBJECTIVES: Newborn screening (NBS) for inborn errors of metabolism (IEMs) has been successfully implemented in China. However, the data on the IEM profiles in many regions are lacking. This study aimed to report the incidence, disease spectrum, and genetic profile of IEMs in northern China. METHODS: A total of 36,590 newborns were screened using tandem mass spectrometry between January 2016 and April 2022. Newborns with positive results were referred for confirmatory testing. RESULTS: Ten patients were confirmed to have IEMs, with an overall incidence of 1:3,539 in the Rizhao region. Five types of IEMs were detected, including four patients with propionic acidemia (PA), three patients with methylmalonic acidemia (MMA), one of each with citrin deficiency, primary carnitine deficiency, and isobutyryl-CoA dehydrogenase deficiency. PA was the most common IEM, with an unexpectedly high incidence of 1:8,848, followed by MMA, with an incidence rate of 1:11,797. All patients had abnormal screening markers and harbored biallelic variants in their respective causative genes. Two novel PCCB variants (c.505G>A and c.1123_1124insG) were identified in patients with PA. In silico analyses predicted that these two variants were potentially pathogenic. CONCLUSIONS: This study preliminarily clarified the incidence, disease spectrum, and genetic profile of IEMs in the Rizhao region. PA is the most common IEM and MMA is the second most common in our region. The two novel identified PCCB variants further expand the variant spectrum of PA. More attention should be paid to NBS, early diagnosis, and management of PA and MA.
