Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?

Sorina Gorcenco; Frédéric M Vaz; Anna Tracewska-Siemiatkowska; Lisbeth Tranebjærg; Frans P M Cremers; Emil Ygland; Jenő Kicsi; Nanna Dahl Rendtorff; Claes Möller; Ulrika Kjellström; Sten Andréasson; Andreas Puschmann

doi:10.1016/j.parkreldis.2018.10.017

Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?

Parkinsonism Relat Disord. 2019 Apr:61:245-247. doi: 10.1016/j.parkreldis.2018.10.017. Epub 2018 Oct 15.

Authors

Affiliations

¹ Lund University, Skane University Hospital, Department of Clinical Sciences Lund, Neurology, Lund, Sweden. Electronic address: Sorina.Gorcenco@skane.se.
² Laboratory of Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
³ Department of Human Genetics, Radboud University Medical Center, 6525 GA, Nijmegen, the Netherlands; DNA Analysis Laboratory, Wroclaw Research Centre EIT+, 54-066 Wroclaw, Poland.
⁴ Department of Clinical Genetics, The Kennedy Centre, Rigshospitalet, DK-2600 Glostrup, Denmark; Institute of Clinical Medicine, University of Copenhagen, DK-2200 Copenhagen N, Denmark.
⁵ Department of Human Genetics, Radboud University Medical Center, 6525 GA, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
⁶ Lund University, Skane University Hospital, Department of Clinical Sciences Lund, Neurology, Lund, Sweden.
⁷ Section for Neurology, Department of Internal Medicine, Central Hospital, Växjö, Sweden.
⁸ Department of Clinical Genetics, The Kennedy Centre, Rigshospitalet, DK-2600 Glostrup, Denmark.
⁹ Department of Audiology, Örebro University Hospital, Sweden.
¹⁰ Lund University, Skane University Hospital, Department of Clinical Sciences Lund, Ophthalmology, Lund, Sweden.

PMID: 30343981
DOI: 10.1016/j.parkreldis.2018.10.017

No abstract available

Keywords: Adult; Ataxia; BVVLS2; Brown-Vialetto-Van Laere syndrome-2; Pharmacokinetics; Recessive; Riboflavin transporter deficiency; SLC52A2; Treatment.

Publication types

Case Reports
Letter
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Bulbar Palsy, Progressive / drug therapy*
Bulbar Palsy, Progressive / genetics
Bulbar Palsy, Progressive / physiopathology*
Hearing Loss, Sensorineural / drug therapy*
Hearing Loss, Sensorineural / genetics
Hearing Loss, Sensorineural / physiopathology*
Humans
Male
Receptors, G-Protein-Coupled / deficiency*
Riboflavin / administration & dosage
Riboflavin / pharmacokinetics*
Vitamin B Complex / administration & dosage
Vitamin B Complex / pharmacokinetics*

Substances

Receptors, G-Protein-Coupled
SLC52A2 protein, human
Vitamin B Complex
Riboflavin

Supplementary concepts

Brown-Vialetto-Van Laere syndrome

Grants and funding

U54 HG006493/HG/NHGRI NIH HHS/United States