Riboflavin Transporter Deficiency as a Cause of Progressive Encephalopathy.

ABSTRACT: Background/Objective: Riboflavin transporter deficiency (RTD) is a rare neurodegenerative disease, with under 500 cases genetically confirmed since the early 2000s. Thus far, three separate subtypes of RTD2 are described-type 1, 2 and 3-but, previously, RTD was classified as two separate genetic defects: Brown-Vialetto-Van Laere syndrome and Fazio-Londe syndrome, caused by mutations in the SLC52A2 and SLC52A3 genes, respectively. The most prominent symptoms found in patients include encephalopathy, expressed as peripheral and cranial nerve neuropathy, which in turn lead to a series of complications: decreased muscle strength, hypotonia, visual impairment, sensorineural hearing loss, bulbar palsy, sensory ataxia and respiratory insufficiency secondary to diaphragmatic p

SUBMITTER: Paprocka J 

PROVIDER: S-EPMC12654560 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature