Long-term outcomes in children with riboflavin transporter deficiency and surveillance recommendations.

The aim of this longitudinal case series was to describe long-term functional outcome in a group of individuals with riboflavin transporter deficiency (RTD) treated with high-dose oral riboflavin. Data were collected between 2012 to 2022. Eleven individuals with RTD were assessed at 12-month intervals for monitoring of disease progression.

Reducing Hospital Length of Stay and Hepatic Artery Thrombosis Rates for Children Receiving a Liver Transplant: A Single-Center Experience From 2000 to 2021.

Background: Pediatric liver transplantation is a very resource-intensive therapy. This study aimed to identify the changes made between two epochs of management and analyze their influence on length of stay (LOS).

Methods: Data from a single center were obtained from the liver transplant and Pediatric Intensive Care Unit (PICU) databases for 336 transplants (282 children) performed between 2000 and 2021.

Development of a functional outcome measure for riboflavin transporter deficiency.

Background And Aims: Riboflavin transporter deficiency (RTD) is a progressive inherited neuropathy of childhood onset, characterised clinically by pontobulbar palsy, sensory ataxia, sensorineural deafness, muscle weakness, optic atrophy and respiratory failure. A robust and responsive functional outcome measure is essential for future clinical trials of disease-modifying therapies including genetic therapies. The Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS) is a well-validated outcome measure for CMT and related neuropathies, and might have utility for measuring disease progression in individuals with RTD.

Benefit of high-dose oral riboflavin therapy in riboflavin transporter deficiency.

Riboflavin transporter deficiency (RTD) is a progressive inherited neuropathy of childhood onset, characterised by pontobulbar palsy, sensorineural deafness, sensory ataxia, muscle weakness, optic atrophy and respiratory failure. Riboflavin supplementation is beneficial in short-term reports, but the quantum of benefit in various clinical domains is not well understood. A PubMed search was conducted, which identified 94 genetically confirmed cases of RTD who received riboflavin supplementation and had follow-up assessments.