Riboflavin transporter deficiency in young adults unmasked by dietary changes
Bregje Jaeger,
Mirjam Langeveld,
Robert Brunkhorst,
Felix Distelmaier,
Ana Pop,
Nicole I. Wolf,
Annet M. Bosch
Affiliations
Bregje Jaeger
Department of Child Neurology Emma Children's Hospital, Amsterdam University Medical Centers Amsterdam The Netherlands
Mirjam Langeveld
Department of Endocrinology and Metabolism Amsterdam University Medical Centers Amsterdam The Netherlands
Robert Brunkhorst
Department of Neurology Aachen University Medical Center Aachen Germany
Felix Distelmaier
Department of General Pediatrics, Neonatology and Pediatric Cardiology University Children's Hospital, Heinrich Heine University Düsseldorf Germany
Ana Pop
Laboratory of Genetic Metabolic Diseases, Gastroenterology, Endocrinology & Metabolism Amsterdam University Medical Centers Amsterdam The Netherlands
Nicole I. Wolf
Department of Child Neurology Emma Children's Hospital, and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit Amsterdam The Netherlands
Annet M. Bosch
Department of Pediatrics, Division of Metabolic Disorders Emma Children's Hospital, Gastroenterology, Endocrinology & Metabolism, Amsterdam University Medical Centers Amsterdam The Netherlands
Abstract Riboflavin transporter deficiency (RTD) is a genetic disorder of reduced riboflavin (vitamin B2) uptake that causes progressive, multifocal neurological dysfunction. Most patients present in early childhood; if patients present later in life, symptoms usually develop more gradually. We report three previously healthy young adults, who developed rapidly progressive neurological symptoms after decreasing dietary intake of meat and dairy. After a diagnostic odyssey, the diagnosis of a riboflavin transporter deficiency was made. Treatment with high dose oral riboflavin (20–40 mg/kg/day) partially reversed symptoms. This case series highlights that reduced riboflavin intake as a result of dietary changes can unmask RTD at a later age. We emphasize the importance of early recognition of this progressive and potentially lethal disease and show that timely treatment with high dose riboflavin is highly effective.
