Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2025 May 22;20(1):241.
doi: 10.1186/s13023-025-03755-8.

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

Alice Rossi #  1 , Chiara Pancaldi #  1 , Maria Giulia Regazzi  1 , Giulio Agnelli  2 , Valentina Assirelli  3 , Antonio Barbato  4 , Federico Baronio  3 , Andrea Benso  5 , Silvia Maria Bernabei  6 , Giacomo Biasucci  7   8 , Mara Botti  9 , Cristina Bonfanti  9 , Andrea Bordugo  10 , Giulia Bruni  11 , Alberto Burlina  12 , Egidio Candela  3 , Maria Teresa Carbone  13 , Rosa Carella  14 , Francesca Carubbi  15 , Annalia Cianflone  9 , Alessandra Cipriani  11 , Silvia Coacci  16 , Giuliana Da Prato  17 , Sabrina De Leo  18 , Valeria Di Natale  3 , Alice Dianin  19 , Carlo Dionisi Vici  20 , Ilaria Fasan  21 , Stefania Ferraro  22 , Massimiliano Filosto  23 , Serena Gasperini  9 , Sara Giorda  24 , Giorgia Gugelmo  25 , Chiara Guzzetti  26 , Concetta Latina  27 , Christian Loro  21 , Evelina Maines  28 , Giacomo Marchi  29 , Elena Massimino  4 , Dorina Mita  2 , Francesca Nardecchia  30 , Davide Noto  31 , Rita Ortolano  3 , Sabrina Paci  32 , Rossella Parini  9 , Sara Parolisi  13 , Giulia Paterno  14 , Lidia Pontillo  33 , Angela Pozzoli  8 , Roberta Pretese  9 , Sara Quattrini  34 , Alice Re Dionigi  35 , Valentina Rovelli  32 , Simona Salera  36 , Ferruccio Santini  37 , Iris Scala  38 , Annalisa Sechi  10 , Claudia Sgattoni  39 , Michele Stecchi  1   2 , Alessandra Tavian  40 , Antonio Toscano  41 , Albina Tummolo  14 , Maria Letizia Urban  42 , Elena Verrecchia  43 , Nicola Vitturi  25 , Claudia Zuppaldi  44 , Juri Zuvadelli  35 , Lucia Brodosi  45   46
Affiliations

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

Alice Rossi et al. Orphanet J Rare Dis. .

Abstract

Background: 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.

Results: 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%).

Conclusions: 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.

Keywords: Adolescent health; Inherited metabolic diseases; Italian survey; Transition.

PubMed Disclaimer

Conflict of interest statement

Declarations. Ethics approval and consent to participate: Not applicable. Consent for publication: Not applicable. Availability of data and materials: The datasets used and/or analyzed during the current study are available from the corresponding author upon reasonable request. Competing interests: The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Number and distribution of the participating centers for each Italian region
Fig. 2
Fig. 2
IMDs treated by the participating centers (the values represent the number of centers treating each IMD)
Fig. 3
Fig. 3
Nutritional management of adult patients with IMDs: comparison from centers with an active transition program (a) and centers currently without an existing transition program (b). Chart A shows which dietitian is entrusted with nutritional follow-up after transition. Chart B shows the dietitian who would be chosen if a transition program were to be started
See this image and copyright information in PMC

Similar articles

See all similar articles

References

    1. Agana M, Frueh J, Kamboj M, Patel DR, Kanungo S. Common metabolic disorder (inborn errors of metabolism) concerns in primary care practice. Ann Transl Med. 2018;6(24):469. - PMC - PubMed
    1. van Wegberg AMJ, MacDonald A, Ahring K, Belanger-Quintana A, Blau N, Bosch AM, et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis. 2017;12(1):162. - PMC - PubMed
    1. Loeber JG, Platis D, Zetterstrom RH, Almashanu S, Boemer F, Bonham JR, et al. Neonatal screening in Europe revisited: an ISNS perspective on the current state and developments since 2010. Int J Neonatal Screen. 2021;7(1):15. - PMC - PubMed
    1. Grosse SD, Thompson JD, Ding Y, Glass M. The use of economic evaluation to inform newborn screening policy decisions: the Washington state experience. Milbank Q. 2016;94(2):366–91. - PMC - PubMed
    1. Chulani VL, Gordon LP. Adolescent growth and development. Prim Care. 2014;41(3):465–87. - PubMed