Through the MetabERN Exchange Programme, Lauma Vasiļevska, paediatrician focussing on metabolic and rare diseases at the Children’s Clinical University Hospital in Riga, Latvia, had the opportunity to visit the University Clinical Hospital of Santiago de Compostela, Spain, from April 13 to April 24, 2026. This visit proved to be a highly valuable experience and was organised with the collaboration of Dr Maria Luz Couce, MetabERN representative of the reference centre and her team.

What were the objectives of the visit?

The objective of this exchange programme was to gain specialised training in the diagnosis and management of inherited metabolic disorders, with a particular focus on amino acid disorders. The visit also aimed to provide the participant with insights into established newborn screening programmes, confirmatory diagnostics, and long-term patient follow-up pathways in a well-established metabolic centre. Ultimately, the visit aimed to facilitate the transfer of knowledge to the sending institution, contributing to improved patient care and service development.

What were the outcomes?

The visit provided the participant with valuable knowledge and practical understanding into the diagnosis, management, and long-term follow-up of inherited metabolic disorders, particularly amino acid disorders.

The participant gained significant insights related to the newborn screening programme in the Galicia region which includes both dried blood spot and urine analysis. This allows for a broader diagnostic spectrum and improved diagnostic accuracy. Additionally, by observing the workflow of the screening laboratory, the participant had the chance to deepen her knowledge on confirmatory diagnostics, causes of false-positive screening results, and implementation of newly developed screening programmes for X-linked adrenoleukodystrophy (X-ALD), Pompe disease, and mucopolysaccharidosis type I.

The exchange programme also provided extensive exposure to the clinical management of various inherited metabolic disorders, including fructosemia, tyrosinemia type I and III, homocystinuria, Niemann–Pick disease type C, multiple acyl-CoA dehydrogenase deficiency (MADD), and medium-chain acyl-CoA dehydrogenase deficiency (MCADD). Participation in clinical discussions and patient management strengthened practical understanding and clinical decision-making skills in metabolic medicine. The experience also facilitated professional networking and will contribute to knowledge transfer and future service development in Latvia.

“I am very grateful for the opportunity to gain experience in a well-established metabolic centre with more than 25 years of experience in extended metabolic newborn screening. The exchange programme provided highly valuable clinical experience and greatly contributed to my professional development.”

Lauma Vasiļevska, paediatrician