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Article

Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience.

Journal of inherited metabolic disease - 1 Jul 2016

Jaeger Bregje, Bosch Annet M

Abstract excerpt

INTRODUCTION: Riboflavin (vitamin B2) is absorbed in the small intestine by the human riboflavin transporters RFVT1 and RFVT3. A third riboflavin transporter (RFVT2) is expressed in the brain. In 2010 it was demonstrated that mutations in the riboflavin transporter genes SLC52A2 (coding for RFVT2) and SLC52A3 (coding for RFVT3) cause a neurodegenerative disorder formerly known as Brown-Vialetto-Van Laere (BVVL)...

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Identifiers

PMID: 26973221
DOI: 10.1007/s10545-016-9924-2
PMCID: PMC4920840

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