ArticleFrontiers in pediatrics2026
Integrating telemedicine into nutritional management of infants with inherited metabolic disorders: a pilot study.
Article in Frontiers in pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Several inherited metabolic disorders (IMDs) require intensive and continuous nutritional management, particularly during the first year of life. Telemedicine (TM) may support care delivery in this setting, but evidence in infants remains limited. Objective: The aim of this pilot study was to assess the feasibility and acceptability of integrating TM into routine nutritional management of infants with IMDs identified through newborn screening. Methods: Caregivers of infants with IMDs requiring nutritional management were asked to choose between telemedicine-integrated follow-up (TM group) or exclusively in-person care (NO-TM group). Anthropometric parameters and clinical signs of malnutrition were assessed at birth, 6, and 12 months of life. All measured disease-specific biomarkers were collected. Caregivers assigned to the TM group completed structured questionnaires evaluating TM satisfaction and patients' quality of life. Results: Nine infants with confirmed IMDs were enrolled and followed for 12 months. Seven patients (78%) were managed with TM integration. Growth trajectories and metabolic outcomes remained within expected clinical targets in both groups, and no clinical signs of malnutrition were observed in any patient. Disease-specific biomarkers in patients with phenylketonuria and citrullinemia type I remained within target ranges in both groups, with more stable phenylalanine levels observed in patients in the TM group. Caregivers reported high satisfaction with TM (median score: 94.5% of the maximum possible score). Quality of life scores were high in all patients. Conclusions: In this small pilot cohort, partial integration of TM into nutritional management of infants with IMDs appeared feasible, was well accepted by caregivers, and was not affected by evident adverse effects on growth or metabolic control during the first year of life. Larger studies are needed to confirm these observations and support wider implementation.
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