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Multiple acyl CoA dehydrogenase deficiency/glutaric aciduria type II ethylmalonic-adipic aciduria
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Three patients were reported [86] who had progressive muscle weakness and paralysis of the diaphragm in whom patterns of acylcarnitine profiles and urinary organic acids suggested an attenuated form of multiple acylCoA dehydrogenase deficiency. They were found to be deficient in riboflavin and also of flavinmononucleotide and FAD. Levels of riboflavin were restored by treatment with riboflavin and clinical manifestation improved markedly. Mutations were found in the C20orf54 gene which encodes the human homolog of the rat transporter for riboflavin. The first two patients were homozygous c.1198-2A>C, an acceptor splice-site mutation; the other patient was heterozygous for p.W17R and p.Y213X. Mutations in this gene were independently found [87] in patients with the Brown–Vialetto–Van Laere syndrome (MIM 211530) and its allelic variant Fazio-Londe syndrome (MIM 211500). Both conditions are motor neuron syndromes which respond well to high-dose (10 mg/kg per day) riboflavin supplementation.
A case report of sudden-onset auditory neuropathy spectrum disorder associated with Brown-Vialetto-Van Laere syndrome (riboflavin transporter deficiency)
Published in International Journal of Audiology, 2022
Ozlem Gedik Soyuyuce, Elif Ayanoglu Aksoy, Zuhal Yapici
Brown-Vialetto-Van Laere (BVVL) syndrome (riboflavin transporter deficiency) is a neurodegenerative disorder that was first reported in 1894 by Charles Brown as an “infantile” form of amyotrophic lateral sclerosis associated with hearing loss (Brown 1894). Ernesto Vialetto reported three siblings with pontobulbar paralysis and associated hearing loss in 1936, followed by a report of three sisters with these clinical features by M. J. Van Laere in 1966, which led to the term “Brown-Vialetto-Van Laere syndrome” (Vialetto 1936; Van Laere 1966). The SLC52A2 and SLC52A3 genes encode the riboflavin (RF) transporters RFVT2 and RFVT3, respectively, and mutations in these genes have been identified in a number of individuals with BVVL (Foley et al. 2014).
Cochlear implantation in children with auditory neuropathy: Lessons from Brown–Vialetto–Van Laere syndrome
Published in Cochlear Implants International, 2019
Phoebe Anderson, Simone Schaefer, Lise Henderson, Iain A. Bruce
Brown–Vialetto–Van Laere syndrome (BVVL) is a progressive, neurodegenerative disorder characterized by bulbar palsy, sensorineural hearing loss, facial weakness and respiratory compromise (Bosch et al., 2012). It was first described by Brown (1894) and later reported by Vialetto (1936) and Van Laere (1966). By 2012, 74 patients with BVVL who presented before 18 years of age had been reported in the literature (Bosch et al., 2012). The age of onset is variable, with cases presenting from infancy to the third decade, with a mean age of presentation of 8.2 years (Bosch et al., 2012) (Sathasivam, 2008; Voudris, Angeliki, and Vagiakou, 2002). Females are reported to be three times more likely to be affected than males (Sathasivam, 2008). However, males are affected at an earlier age and more severely (Sathasivam, 2008; Voudris, Angeliki, and Vagiakou, 2002). The majority of cases demonstrate an autosomal recessive pattern of inheritance (Bosch et al., 2012; Green et al., 2010). It is now understood that BVVL is caused by a mutation in the SLC52A3, SCL52A2 or SCL52A1 genes (Green et al., 2010; Johnson et al., 2012; Ho et al., 2011), that encode for the interstitial riboflavin transporters, hRFT2, hRFT3 and hRFT1, respectively (Johnson et al., 2012; Ho et al., 2011). These mutations have been shown to reduce riboflavin transporter expression and cellular uptake of riboflavin, a vitamin that is essential for cellular energy generation and maintenance of nervous system function (Haack et al., 2012; Foley et al., 2016; Menezes et al., 2016; Chandran, Alexanders, and Naina, 2015). Replacement of riboflavin with oral or intravenous (IV) supplementation has led to lifesaving results, with a dramatic improvement in symptoms in some cases (Bosch et al., 2012; Green et al., 2010; Johnson et al., 2012; Haack et al., 2012).