Riboflavin transporter deficiency in young adults unmasked by dietary changes
Bregje Jaeger,
Mirjam Langeveld,
Robert Brunkhorst
et al.
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 defic… Show more
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