Riboflavin treatment in genetically proven Brown–Vialetto–Van Laere syndrome

Garg, Montey; Kulkarni, Shilpa; Hegde, Anaita Udwadia; Shah, Karan

doi:10.4103/jpn.jpn_131_17

Cited by 13 publications

(5 citation statements)

References 11 publications

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“…There have been more recent reports of improved functional hearing in a few single cases, with equivalent numbers reporting no improvement. 8,[20][21][22] Although our case 4 did not show improvement in pure tone audiograms, the patient did report some improvement in functional hearing. Measurable improvement in hearing in response to riboflavin treatment has yet to be reported in Brown-Vialetto-Van Laere syndrome cases with SLC52A3 mutations.…”

Section: Discussioncontrasting

confidence: 58%

“…Measurable improvement in hearing in response to riboflavin treatment has yet to be reported in Brown-Vialetto-Van Laere syndrome cases with SLC52A3 mutations. 20,21 There is also significant variability in the vestibular profile of our three cases who underwent vestibular testing, with case 1 demonstrating the presence of lateral semicircular canal function, case 2 showing severe bilateral vestibular hypofunction and case 3 demonstrating mild symmetrical The Journal of Laryngology & Otology hypofunction. Vestibular dysfunction has been described in the wider auditory neuropathy spectrum disorder literature using a variety of methods.…”

Section: Discussionmentioning

confidence: 92%

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The audiovestibular profile of Brown-Vialetto-Van Laere syndrome

et al. 2021

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Background Brown-Vialetto-Van Laere syndrome, a rare disorder associated with motor, sensory and cranial nerve neuropathy, is caused by mutations in riboflavin transporter genes SLC52A2 and SLC52A3. Hearing loss is a characteristic feature of Brown-Vialetto-Van Laere syndrome and has been shown in recent studies to be characterised by auditory neuropathy spectrum disorder. Method This study reports the detailed audiovestibular profiles of four cases of Brown-Vialetto-Van Laere syndrome with SLC52A2 and SLC52A3 mutations. All of these patients had auditory neuropathy spectrum disorder. Results There was significant heterogeneity in vestibular function and in the benefit gained from cochlear implantation. The audiological response to riboflavin therapy was also variable, in contrast to generalised improvement in motor function. Conclusion We suggest that comprehensive testing of vestibular function should be conducted in Brown-Vialetto-Van Laere syndrome, in addition to serial behavioural audiometry as part of the systematic examination of the effects of riboflavin.

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Section: Discussioncontrasting

confidence: 58%

Section: Discussionmentioning

confidence: 92%

The audiovestibular profile of Brown-Vialetto-Van Laere syndrome

et al. 2021

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“…A summary of the articles that reported follow‐up data in each of the domains is shown in Table S1. Forty‐seven of those patients had RTD2 due to biallelic mutations in SLC52A2 , 2–4,12,14–33 46 had RTD3 due to biallelic mutations in SLC52A3 18,20,24,27,31,34–57 and one patient had a mutation in both SLC52A2 and SLC52A3 58 . Seventy‐six of the 94 patients (80.9%) showed an overall improvement after riboflavin supplementation, and the remaining (19.1%) were stable after riboflavin supplementation.…”

Section: Resultsmentioning

confidence: 99%

Benefit of high‐dose oral riboflavin therapy in riboflavin transporter deficiency

Fennessy

Cornett

Burns

et al. 2023

J Peripheral Nervous Sys

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Background and AimsRiboflavin Transporter Deficiency (RTD) is a progressive inherited neuropathy of childhood onset, characterised by pontobulbar palsy, sensorineural deafness, sensory ataxia, muscle weakness, optic atrophy and respiratory failure. Riboflavin supplementation has been shown to be beneficial in short‐term reports but the quantum of benefit in various clinical domains is not well understood.MethodsA PubMed search was conducted which identified 94 genetically confirmed cases of RTD who received riboflavin supplementation and had follow‐up assessments. Information on the clinical and functional status before and after riboflavin supplementation was collected and analysed.ResultsSeventy‐six of the 94 patients (80.9%) showed an overall improvement after riboflavin supplementation, and the remaining (19.1%) were stable, though some patients had deteriorations in individual domains with no reported deaths. The domains that had the highest rates of response to riboflavin supplementation were gross motor function (93.3% improved), bulbar palsy (91.3%), and ataxia (90.0%). Improvements were also seen in limb muscle weakness, audiology, facial nerve palsy and respiratory function. Despite treatment, many patients required assistance to ambulate and had severe or profound hearing loss and some remained gastrostomy or tracheostomy‐dependent.InterpretationRiboflavin supplementation is a life‐saving intervention for patients with RTD and results in profound improvement in several functional domains, with early diagnosis and treatment further improving outcomes. Despite treatment, patients are left with residual disability. There is a need to accurately measure functional outcomes in children with RTD and develop additional disease modifying therapies.This article is protected by copyright. All rights reserved.

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“…Since RTD definition, a total of 109 RTD patients have been recently exhaustively reviewed in [103]; further nine novel cases have been reported in [106][107][108][109][110][111][112][113][114].…”

Section: Rf Neuronal Homeostasis and Bvvlsmentioning

confidence: 99%

Development of Novel Experimental Models to Study Flavoproteome Alterations in Human Neuromuscular Diseases: The Effect of Rf Therapy

Tolomeo

Nisco

Leone

et al. 2020

IJMS

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Inborn errors of Riboflavin (Rf) transport and metabolism have been recently related to severe human neuromuscular disorders, as resulting in profound alteration of human flavoproteome and, therefore, of cellular bioenergetics. This explains why the interest in studying the “flavin world”, a topic which has not been intensively investigated before, has increased much over the last few years. This also prompts basic questions concerning how Rf transporters and FAD (flavin adenine dinucleotide) -forming enzymes work in humans, and how they can create a coordinated network ensuring the maintenance of intracellular flavoproteome. The concept of a coordinated cellular “flavin network”, introduced long ago studying humans suffering for Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), has been, later on, addressed in model organisms and more recently in cell models. In the frame of the underlying relevance of a correct supply of Rf in humans and of a better understanding of the molecular rationale of Rf therapy in patients, this review wants to deal with theories and existing experimental models in the aim to potentiate possible therapeutic interventions in Rf-related neuromuscular diseases.

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Riboflavin treatment in genetically proven Brown–Vialetto–Van Laere syndrome

Cited by 13 publications

References 11 publications

The audiovestibular profile of Brown-Vialetto-Van Laere syndrome

The audiovestibular profile of Brown-Vialetto-Van Laere syndrome

Benefit of high‐dose oral riboflavin therapy in riboflavin transporter deficiency

Development of Novel Experimental Models to Study Flavoproteome Alterations in Human Neuromuscular Diseases: The Effect of Rf Therapy

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