Guideline for the diagnosis and the treatment of Riboflavin Transporter Deficiency
(Brown- Vialetto - Van Laere /Fazio Londe)
If a patient is suspected to have a Riboflavin Transporter Deficiency:
1. Take blood samples for:
2. Immediately start riboflavin supplementation without awaiting results of diagnostics. Do not stop riboflavin supplementation until the patient has been proven not to have a riboflavin transporter deficiency
3. Monitor clinical outcome.
Monitor clinical outcome at the time of the start of riboflavin supplementation, but do not postpone start of treatment. Consider:
1. Clinical evaluation: consider to document
2. EMG/nerve conduction studies
3. Auditory and brain stem evoked potentials
4. Ultrasound study of the diaphragm
5. MRI brain particular focus on brainstem
Consider repeated monitoring parameters 1 – 4 after 3 and 6 months:
Laboratories performing mutation analysis:
Academic Medical Center
Laboratory Genetic Metabolic Diseases (F0-132)
PO Box 22700
1100 DE Amsterdam, The Netherlands
Metabolite diagnostics (flavines, acylcarnitines) firstname.lastname@example.org
DNA diagnostics (SLC52A2 and SLC52A3) email@example.com
Please visit http://www.ncbi.nlm.nih.gov/sites/GeneTests/?db=GeneTests, under BVVLS, where the details of the lab and services they offer can be found.
1. Bosch AM, Stroek K, Abeling NG, Waterham HR, Ijlst L, Wanders RJ. The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. Orphanet J Rare Dis. 2012 Oct 29;7:83.
2. Foley AR, Menezes MP, Pandraud A et al. Treatable childhood neuronopathy caused by mutation in riboflavin transporter RFVT
2. Brain. 2014 Jan; 137 (Pt 1):44-56
3. Brijlal S, Lakshmi AV. Tissue distribution and turnover of [3H]riboflavin during respiratory infection in mice. Metabolism. 1999 Dec;48(12):1608-11.
4. Bamji MS, Bhaskaram P, Jacob CM. Urinary riboflavin excretion and erythrocyte glutathione reductase activity in preschool children suffering from upper respiratory infections and measles. Ann Nutr Metab. 1987; 31(3):191-6.