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Riboflavin transporter deficiency

MedGen UID:
1634394
Concept ID:
C4551777
Disease or Syndrome
Synonym: Brown-Vialetto-Van Laere syndrome
SNOMED CT: Progressive bulbar palsy with sensorineural deafness (699866005); Brown-Vialetto-Van Laere syndrome (699866005); Pontobulbar palsy with deafness (699866005); Riboflavin transporter deficiency (699866005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0008891
OMIM® Phenotypic series: PS211530
Orphanet: ORPHA97229

Definition

A rare, genetic motor neuron disease characterized by a peripheral and cranial neuropathy, neuronal loss in anterior horns and atrophy of spinal sensory tracts, causing muscle weakness, sensory loss, diaphragmatic paralysis and respiratory insufficiency, and multiple cranial nerve deficits such as sensorineural hearing loss, bulbar symptoms, and loss of vision due to optic atrophy. Depending on the transporter affected, Riboflavin transporter deficiency 2 (RFVT2) and Riboflavin transporter deficiency 3 (RFVT3) are distinguished. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRiboflavin transporter deficiency

Professional guidelines

PubMed

Bosch AM, Stroek K, Abeling NG, Waterham HR, Ijlst L, Wanders RJ
Orphanet J Rare Dis 2012 Oct 29;7:83. doi: 10.1186/1750-1172-7-83. PMID: 23107375Free PMC Article
Horvath R
J Inherit Metab Dis 2012 Jul;35(4):679-87. Epub 2012 Jan 10 doi: 10.1007/s10545-011-9434-1. PMID: 22231380

Recent clinical studies

Etiology

Plantone D, Pardini M, Rinaldi G
Clin Drug Investig 2021 Jun;41(6):513-527. Epub 2021 Apr 22 doi: 10.1007/s40261-021-01038-1. PMID: 33886098
Console L, Tolomeo M, Colella M, Barile M, Indiveri C
Int J Mol Sci 2019 Sep 8;20(18) doi: 10.3390/ijms20184416. PMID: 31500345Free PMC Article
Mandarakas MR, Menezes MP, Rose KJ, Shy R, Eichinger K, Foscan M, Estilow T, Kennedy R, Herbert K, Bray P, Refshauge K, Ryan MM, Yiu EM, Farrar M, Sampaio H, Moroni I, Pagliano E, Pareyson D, Yum SW, Herrmann DN, Acsadi G, Shy ME, Burns J, Sanmaneechai O
Brain 2018 Dec 1;141(12):3319-3330. doi: 10.1093/brain/awy280. PMID: 30476010Free PMC Article
Cornett KMD, Menezes MP, Bray P, Halaki M, Burns J
J Peripher Nerv Syst 2018 Mar;23(1):29-35. Epub 2017 Dec 11 doi: 10.1111/jns.12245. PMID: 29168276
Menezes MP, O'Brien K, Hill M, Webster R, Antony J, Ouvrier R, Birman C, Gardner-Berry K
Dev Med Child Neurol 2016 Aug;58(8):848-54. Epub 2016 Feb 25 doi: 10.1111/dmcn.13084. PMID: 26918385

Diagnosis

Fennessy JR, Cornett KMD, Burns J, Menezes MP
J Peripher Nerv Syst 2023 Sep;28(3):308-316. Epub 2023 Aug 24 doi: 10.1111/jns.12587. PMID: 37537696
Bulas S, Bedoukian EC, O'Neil EC, Krantz ID, Yum SW, Liu GT, Aleman TS
J Neuroophthalmol 2023 Mar 1;43(1):110-115. Epub 2022 Aug 2 doi: 10.1097/WNO.0000000000001678. PMID: 35921603
Plantone D, Pardini M, Rinaldi G
Clin Drug Investig 2021 Jun;41(6):513-527. Epub 2021 Apr 22 doi: 10.1007/s40261-021-01038-1. PMID: 33886098
O'Callaghan B, Bosch AM, Houlden H
J Inherit Metab Dis 2019 Jul;42(4):598-607. Epub 2019 Feb 21 doi: 10.1002/jimd.12053. PMID: 30793323
Jaeger B, Bosch AM
J Inherit Metab Dis 2016 Jul;39(4):559-64. Epub 2016 Mar 14 doi: 10.1007/s10545-016-9924-2. PMID: 26973221Free PMC Article

Therapy

Fennessy JR, Cornett KMD, Burns J, Menezes MP
J Peripher Nerv Syst 2023 Sep;28(3):308-316. Epub 2023 Aug 24 doi: 10.1111/jns.12587. PMID: 37537696
Elks N, Wilmshurst JM, Raga SV
Pediatr Neurol 2023 Jul;144:16-18. Epub 2023 Apr 7 doi: 10.1016/j.pediatrneurol.2023.04.004. PMID: 37116404
Bulas S, Bedoukian EC, O'Neil EC, Krantz ID, Yum SW, Liu GT, Aleman TS
J Neuroophthalmol 2023 Mar 1;43(1):110-115. Epub 2022 Aug 2 doi: 10.1097/WNO.0000000000001678. PMID: 35921603
Plantone D, Pardini M, Rinaldi G
Clin Drug Investig 2021 Jun;41(6):513-527. Epub 2021 Apr 22 doi: 10.1007/s40261-021-01038-1. PMID: 33886098
Menezes MP, O'Brien K, Hill M, Webster R, Antony J, Ouvrier R, Birman C, Gardner-Berry K
Dev Med Child Neurol 2016 Aug;58(8):848-54. Epub 2016 Feb 25 doi: 10.1111/dmcn.13084. PMID: 26918385

Prognosis

Nair AV, Kandagaddala M, Sivadasan A, Prabhakar AT, Nair S, Mathew V, Aaron S, Alexander M
J Clin Neuromuscul Dis 2024 Mar 1;25(3):122-131. doi: 10.1097/CND.0000000000000465. PMID: 38441928
Plantone D, Pardini M, Rinaldi G
Clin Drug Investig 2021 Jun;41(6):513-527. Epub 2021 Apr 22 doi: 10.1007/s40261-021-01038-1. PMID: 33886098
Gayathri S, Gowda VK, Udhayabanu T, O'Callaghan B, Efthymiou S, Varalakshmi P, Benakappa N, Houlden H, Ashokkumar B
Eur J Neurol 2021 Mar;28(3):945-954. Epub 2021 Jan 5 doi: 10.1111/ene.14682. PMID: 33325104
Jaeger B, Bosch AM
J Inherit Metab Dis 2016 Jul;39(4):559-64. Epub 2016 Mar 14 doi: 10.1007/s10545-016-9924-2. PMID: 26973221Free PMC Article
Menezes MP, O'Brien K, Hill M, Webster R, Antony J, Ouvrier R, Birman C, Gardner-Berry K
Dev Med Child Neurol 2016 Aug;58(8):848-54. Epub 2016 Feb 25 doi: 10.1111/dmcn.13084. PMID: 26918385

Clinical prediction guides

Fennessy JR, Donlevy GA, McKay MJ, Burns J, Cornett KMD, Menezes MP
J Peripher Nerv Syst 2024 Jun;29(2):185-192. Epub 2024 Mar 6 doi: 10.1111/jns.12619. PMID: 38445790
Gayathri S, Gowda VK, Udhayabanu T, O'Callaghan B, Efthymiou S, Varalakshmi P, Benakappa N, Houlden H, Ashokkumar B
Eur J Neurol 2021 Mar;28(3):945-954. Epub 2021 Jan 5 doi: 10.1111/ene.14682. PMID: 33325104
Amir F, Atzinger C, Massey K, Greinwald J, Hunter LL, Ulm E, Kettler M
J Child Neurol 2020 Mar;35(4):283-290. Epub 2019 Dec 23 doi: 10.1177/0883073819893159. PMID: 31868069
Anderson P, Schaefer S, Henderson L, Bruce IA
Cochlear Implants Int 2019 Jan;20(1):31-38. Epub 2018 Oct 18 doi: 10.1080/14670100.2018.1534035. PMID: 30332915
Mandarakas MR, Menezes MP, Rose KJ, Shy R, Eichinger K, Foscan M, Estilow T, Kennedy R, Herbert K, Bray P, Refshauge K, Ryan MM, Yiu EM, Farrar M, Sampaio H, Moroni I, Pagliano E, Pareyson D, Yum SW, Herrmann DN, Acsadi G, Shy ME, Burns J, Sanmaneechai O
Brain 2018 Dec 1;141(12):3319-3330. doi: 10.1093/brain/awy280. PMID: 30476010Free PMC Article

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