Monitoring and management of patients with inherited metabolic disorders identified through extended neonatal screening

Abstract

The article presents a retrospective analysis of the results of expanded newborn screening (NBS) for inborn errors of metabolism (IEM)
in the Nizhny Novgorod region during 2023–2024. The study aimed to assess the effectiveness of NBS in early detection of IEMs and
improving patient outcomes. Out of 192 patients who required retesting, 4 were diagnosed with IEMs.
All patients with confirmed diagnoses received specialized treatment, including dietary adjustments and medication. A clinical case of a girl with methylmalonic acidemia detected through NBS and presenting with a congenital malformation — a left-sided cleft lip — is presented. During follow-up observations, the patient is developing age-appropriately, has successfully undergone surgical correction for the cleft lip, and continues to receive diet therapy and necessary medications.
The findings underscore the significance of MBS in early identification of IEMs, although maintaining vigilance among healthcare professionals remains crucial, especially when screening results are negative.