Riboflavin Transporter Deficiency Type 2: Expanding the Phenotype of the Lebanese Founder Mutation p.Gly306Arg in the <i>SLC52A2</i> Gene

Riboflavin Transporter Deficiency Type 2: Expanding the Phenotype of the Lebanese Founder Mutation p.Gly306Arg in the <i>SLC52A2</i> Gene

<b>Background</b>: Riboflavin transporter deficiency type 2 is an ultra-rare, yet treatable, inborn error of metabolism. This autosomal recessive disorder is caused by pathogenic mutations in the <i>SLC52A2</i> gene leading to progressive ataxia, polyneuropathy, and hearing a...

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Bibliographic Details
Main Authors: Jean-Marc T. Jreissati, Leonard Lawandos, Julien T. Jreissati, Pascale E. Karam
Format: Article
Language:English
Published: MDPI AG 2025-07-01
Series:Metabolites
Subjects:
riboflavin
neuropathy
ataxia
hearing loss
vision
<i>SLC52A2</i>
Online Access:https://www.mdpi.com/2218-1989/15/7/491
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