- Article
Riboflavin Transporter Deficiency Type 2: Expanding the Phenotype of the Lebanese Founder Mutation p.Gly306Arg in the SLC52A2 Gene
- Jean-Marc T. Jreissati,
- Leonard Lawandos,
- Julien T. Jreissati and
- Pascale E. Karam
Background: 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 SLC52A2 gene leading to progressive ataxia, polyneuropathy, a...

