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3.1 Riboflavin transporter deficiency Riboflavin transporter deficiency (RTD)historically termed BrownVialettoVan Laere or Fazio-Londe syndromeis a rare, early-onset motor neuron disease that couples the biochemistry of riboflavin with overt neurodegeneration ( SLC52A2 or SLC52A3 abrogate membrane uptake of riboflavin, precipitating secondary FMN/FAD depletion in metabolically demanding neurons and glia ( Mechanistic work in patient fibroblasts and iPSC-derived motor neurons confirms that transporter mutations collapse intracellular FMN/FAD pools, impair respiratory-chain flux and trigger neurite loss
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