JIM 2024; 1 (2): e539
DOI: 10.61012_20245_539

Newborn screening, diagnosis, and management of inherited metabolic disorders: status and progress of the southern Mediterranean countries

Topic: Inherited Metabolic Diseases in Paediatric Age   Category:

Abstract

OBJECTIVE: Efficient management of inherited metabolic disorders requires early diagnosis through newborn screening, confirmatory diagnostic analyses, follow-up of detected patients, and availability of therapeutic resources. The aim of this work is to share the present state of newborn screening (NBS) programs in Mediterranean countries and discuss urgent needs and possible actions.


MATERIALS AND METHODS: A group of experts from Albania, Cyprus, Greece, and Italy met to discuss the disparities among countries regarding practices, regulations, resources, and expertise necessary to manage inherited metabolic disorders. As Italy has a long experience with newborn screening, the Italian participants acted as moderators of the meeting and suggested possible actions to address the problems in the Mediterranean region.


RESULTS: Differences and disparities among countries regarding practices, regulations, resources, and expertise in the management of inherited metabolic disorders emerged.


CONCLUSIONS: All participants call for collaboration among countries to promote efforts for cultural advancements, economic resource gathering, and regulatory changes in Mediterranean countries.

To cite this article

Newborn screening, diagnosis, and management of inherited metabolic disorders: status and progress of the southern Mediterranean countries

JIM 2024; 1 (2): e539
DOI: 10.61012_20245_539

Publication History

Submission date: 23 Mar 2024

Revised on: 03 May 2024

Accepted on: 30 May 2024

Published online: 31 May 2024