The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa

Chaya, Shaakira; Zampoli, Marco; Gray, Diane; Booth, Jane; Riordan, Gillian; Ndondo, Alvin; Fieggen, Karen; Rusch, Jody A; Watt, George van der; Pillay, Komala; Westhuizen, Francois H. van der; Menezes, Manoj P.; Wilmshurst, Jo M.

doi:10.1016/j.spen.2017.03.002

Cited by 22 publications

(34 citation statements)

References 14 publications

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“…Assessment of sural nerve biopsies from RTD2 and RTD3 patients show evidence for axonal neuropathy and degeneration which preferentially affects large caliber myelinated axons, in accordance with the sensory impairments observed in these patients.…”

Section: Riboflavin Transporter Deficienciessupporting

confidence: 66%

“…Measurements of the erythrocyte glutathione reductase activity coefficient (EGRAC) are representative of flavin status and more routinely done in the clinic. An abnormal EGRAC measurement without acylcarnitine abnormalities has been reported in a single RTD3 case, which normalized following riboflavin supplementation …”

Section: Riboflavin Transporter Deficienciesmentioning

confidence: 77%

“…There have since been a further 10 publications reporting on 23 newly diagnosed RTD2 cases, and 12 reporting on 27 newly diagnosed RTD3 cases . A patient harboring a heterozygous pathogenic mutation in SLC52A3 and heterozygous SLC52A2 variant of unknown significance has been described, which will be considered as a RTD3 case here.…”

Section: Riboflavin Transporter Deficienciesmentioning

confidence: 99%

“…Effective doses which have been used vary between 10 and 80 mg/kg/day, while doses below 10 mg/kg/day are reported to be ineffective (personal communications). Doses as high as 80 mg/kg body weight per day have been tolerated with minimal side effects, although gastrointestinal side effects are rarely noted …”

Section: Riboflavin Transporter Deficienciesmentioning

confidence: 99%

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An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency

O’Callaghan

Bosch

Houlden

2019

J of Inher Metab Disea

132

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Riboflavin transporter deficiency (RTD) is a rare neurological condition that encompasses the Brown‐Vialetto‐Van Laere and Fazio‐Londe syndromes since the discovery of pathogenic mutations in the SLC52A2 and SLC52A3 genes that encode human riboflavin transporters RFVT2 and RFVT3. Patients present with a deteriorating progression of peripheral and cranial neuropathy that causes muscle weakness, vision loss, deafness, sensory ataxia, and respiratory compromise which when left untreated can be fatal. Considerable progress in the clinical and genetic diagnosis of RTDs has been made in recent years and has permitted the successful lifesaving treatment of many patients with high dose riboflavin supplementation. In this review, we first outline the importance of riboflavin and its efficient transmembrane transport in human physiology. Reports on 109 patients with a genetically confirmed diagnosis of RTD are then summarized in order to highlight commonly presenting clinical features and possible differences between patients with pathogenic SLC52A2 (RTD2) or SLC52A3 (RTD3) mutations. Finally, we focus attention on recent work with different models of RTD that have revealed possible pathomechanisms contributing to neurodegeneration in patients.

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Section: Riboflavin Transporter Deficienciessupporting

confidence: 66%

Section: Riboflavin Transporter Deficienciesmentioning

confidence: 77%

Section: Riboflavin Transporter Deficienciesmentioning

confidence: 99%

Section: Riboflavin Transporter Deficienciesmentioning

confidence: 99%

See 2 more Smart Citations

An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency

O’Callaghan

Bosch

Houlden

2019

J of Inher Metab Disea

132

View full text Add to dashboard Cite

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“…Although hearing loss has often been observed to precede other neurological manifestations, there are case reports that suggest of the existing variation in the age of presentation as well as in the severity and duration of hearing loss and the neurological disease 7 11 12. Chaya et al have also described a similar presentation in an 11-month-old infant with respiratory failure without hearing loss 13. There is evidence to show that life expectancy improves after active management 1…”

Section: Discussionmentioning

confidence: 92%

Brown-Vialetto-Van Laere syndrome: a novel diagnosis to a common presentation

Abbas¹,

Jafri

Ishaque

et al. 2018

BMJ Case Reports

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Brown-Vialetto-Van Laere syndrome (BVVLS) or riboflavin transporter deficiency (OMIM 211530) is a rare treatable autosomal recessive neurodegenerative disorder. This condition is associated with progressive pontobulbar palsy. We describe the clinical course of a 16-month-old boy with BVVLS and a novel homozygous mutation from Pakistan. Our patient presented with stridor and respiratory insufficiency. Hearing loss which is the most common sign of this condition was absent, making it an unusual presentation of BVVLS. His examination revealed ptosis and tongue fasciculation. His riboflavin receptor mutational analysis showed the homozygous mutation in the gene. Per oral riboflavin was administered, and subsequently, he was able to be weaned off the ventilator. Now the child is improving and attaining developmental milestones.

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Riboflavin transporter deficiency in young adults unmasked by dietary changes

Jaeger,

Langeveld,

Brunkhorst

et al. 2024

JIMD Reports

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Riboflavin transporter deficiency (RTD) is a genetic disorder of reduced riboflavin (vitamin B2) uptake that causes progressive, multifocal neurological dysfunction. Most patients present in early childhood; if patients present later in life, symptoms usually develop more gradually. We report three previously healthy young adults, who developed rapidly progressive neurological symptoms after decreasing dietary intake of meat and dairy. After a diagnostic odyssey, the diagnosis of a riboflavin transporter deficiency was made. Treatment with high dose oral riboflavin (20–40 mg/kg/day) partially reversed symptoms. This case series highlights that reduced riboflavin intake as a result of dietary changes can unmask RTD at a later age. We emphasize the importance of early recognition of this progressive and potentially lethal disease and show that timely treatment with high dose riboflavin is highly effective.

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The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa

Cited by 22 publications

References 14 publications

An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency

An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency

Brown-Vialetto-Van Laere syndrome: a novel diagnosis to a common presentation

Riboflavin transporter deficiency in young adults unmasked by dietary changes

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