Integrating telemedicine into nutritional management of infants with inherited metabolic disorders: a pilot study - Report - MDSpire

Incorporating Telehealth into Nutritional Care for Infants with Genetic Metabolic Disorders: A Preliminary Investigation

  • By

  • Veronica Maria Tagi

  • Chiara Montanari

  • Martina Tosi

  • Eliana Stucchi

  • Aurora Maria Esmeralda Cartalemi

  • Letizia Gandini

  • Francesca Eletti

  • Veronica Perico

  • Barbara Borsani

  • Laura Fiori

  • Valeria Calcaterra

  • Gianvincenzo Zuccotti

  • July 21, 2026

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Clinical Report: Incorporating Telehealth into Nutritional Care for Infants with IMDs

Overview

This pilot study evaluates the feasibility and acceptability of integrating telemedicine into the nutritional management of infants with inherited metabolic disorders (IMDs).

Background

Inherited metabolic disorders (IMDs) require intensive nutritional management, particularly in infancy. Telemedicine may enhance care delivery for these patients, yet evidence supporting its use in this population is limited. This study aims to address the gap by assessing telemedicine's integration into routine nutritional care for infants identified through newborn screening.

Data Highlights

GroupInfants ManagedGrowth TrajectoriesClinical Signs of MalnutritionCaregiver Satisfaction
TM Group7 (78%)Within expected targetsNone94.5%
NO-TM Group2Within expected targetsNoneN/A

Key Findings

  • 78% of infants were managed with telemedicine integration.
  • Growth trajectories remained within expected clinical targets for both groups.
  • No clinical signs of malnutrition were observed in any patient.
  • Stable phenylalanine levels were noted in the TM group.
  • Caregivers reported high satisfaction with telemedicine services.
  • Quality of life scores were high across all patients.

Clinical Implications

Further investigation in larger studies is warranted to explore the integration of telemedicine into nutritional management for infants with IMDs.

Conclusion

The integration of telemedicine into nutritional management for infants with IMDs requires further investigation in larger studies.

Related Resources & Content

  1. Frontiers in Pediatrics, 2026 -- Telemedicine follow-up and nutritional outcomes in children with neurological impairment: a longitudinal study
  2. Frontiers in Pediatrics, 2026 -- Metabolic maturity patterns in neonates: dissecting the interactive effects of gestational age and birth weight on metabolic profiles
  3. Critical Care (Springer), 2026 -- Hypophosphatemia as a biomarker of metabolic intolerance to enhanced nutrition in the PICU: a secondary analysis of the PEPaNIC RCT
  4. Nutrition Management Guidelines for UCD | Southeast Regional Genetics Network
  5. Telehealth: Improving Access to and Quality of Pediatric Health Care | Pediatrics | American Academy of Pediatrics
  6. Frontiers in Pediatrics — Nutrition protocols improve caloric adequacy in critically Ill children: a systematic review and meta-analysis
  7. Nutrition Management Guidelines for UCD | Southeast Regional Genetics Network
  8. Telehealth: Improving Access to and Quality of Pediatric Health Care | Pediatrics | American Academy of Pediatrics
  9. Impact of early diagnosis, disease variant, and quality of care on the neurocognitive outcome in maple syrup urine disease: A meta-analysis - ScienceDirect

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