# Transition in inherited metabolic diseases: the dietitians, pediatricians and adult physicians’ point of view: the results of an Italian survey

## TL;DR

This Italian survey explores challenges in transitioning patients with inherited metabolic diseases from pediatric to adult care, highlighting the need for standardized programs and specialized training.

## Contribution

The study provides insights into the current state and barriers of transition programs for inherited metabolic diseases in Italy, emphasizing the need for standardization and training.

## Key findings

- Only 16 out of 35 centers in Italy have a transition program for inherited metabolic disease patients.
- Lack of suitable facilities and specialized training are major barriers to implementing transition programs.
- There is a clear need for standardization and dedicated training for physicians and dietitians in adult metabolic care.

## Abstract

Patients affected by inherited metabolic diseases (IMDs), through effective newborn screening and better clinical management, are living longer and have a lower burden of disease; this rises the challenge of properly taking life-long care of them as they age. This study aims to assess the Italian experience with the transition of patients affected by IMDs from pediatrician to adult care, focusing on the dietetic approach as well. For this purpose, a survey was created on REDCap® and distributed via email to the members of the “Dietetics and Nutrition Working Group” and “Inherited Metabolic Diseases in Adults Working Group” of “Italian IMD and Newborn Screening Society” (SIMMESN); dissemination was possible with the collaboration of MetabERN.

A total of 49 complete responses were collected-28 from medical doctors (MDs) and 21 from dietitians-from 35 different centers. Considering the MDs, 13 take care of pediatric patients; the remaining 15, with heterogeneous specialization, of adults with IMDs. Considering the dietitians, only 6 deal with IMDs patients as their full-time activity. Out of the 35 centers, 19 do not have a transition program (while 10/19 are already trying to implement it); the main barrier identified to the implementation voted by 42% of participants is represented by the lack of identification of a suitable facility. Considering the 16 centers that already have a transition program, the 2 main difficulties reported by 43% of participants were the lack of a psychologist for adult centers and the lack of specific training in IMDs on the adult service team; this last option was also the most voted by the dietitians (44%).

The administered survey allows us to capture the state of transition programs in Italy, the lack of homogeneity in those centers that already have one, and the obstacles to developing a new program. What unequivocally emerged is the need for standardization of the transition program and for delineating a path to train MDs specialized in treating adult patients with IMDs, as well as dedicated dietitians.

The online version contains supplementary material available at 10.1186/s13023-025-03755-8.