Title |
Brown‐Vialetto‐Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment
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Published in |
Journal of Inherited Metabolic Disease, November 2010
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DOI | 10.1007/s10545-010-9242-z |
Pubmed ID | |
Authors |
Annet M. Bosch, Nico G. G. M. Abeling, Lodewijk IJlst, Hennie Knoester, W. Ludo van der Pol, Alida E. M. Stroomer, Ronald J. Wanders, Gepke Visser, Frits A. Wijburg, Marinus Duran, Hans R. Waterham |
Abstract |
We report on three patients (two siblings and one unrelated) presenting in infancy with progressive muscle weakness and paralysis of the diaphragm. Metabolic studies revealed a profile of plasma acylcarnitines and urine organic acids suggestive of a mild form of the multiple acyl-CoA dehydrogenation defect (MADD, ethylmalonic/adipic acid syndrome). Subsequently, a profound flavin deficiency in spite of a normal dietary riboflavin intake was established in the plasma of all three children, suggesting a riboflavin transporter defect. Genetic analysis of these patients demonstrated mutations in the C20orf54 gene which encodes the human homolog of a rat riboflavin transporter. This gene was recently implicated in the Brown-Vialetto-Van Laere syndrome, a rare neurological disorder which may either present in infancy with neurological deterioration with hypotonia, respiratory insufficiency and early death, or later in life with deafness and progressive ponto-bulbar palsy. Supplementation of riboflavin rapidly improved the clinical symptoms as well as the biochemical abnormalities in our patients, demonstrating that high dose riboflavin is a potential treatment for the Brown-Vialetto-Van Laere syndrome as well as for the Fazio Londe syndrome which is considered to be the same disease entity without the deafness. |
Mendeley readers
Geographical breakdown
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United Kingdom | 1 | 1% |
Germany | 1 | 1% |
Unknown | 94 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 13 | 14% |
Researcher | 11 | 11% |
Student > Doctoral Student | 9 | 9% |
Student > Postgraduate | 9 | 9% |
Student > Master | 9 | 9% |
Other | 25 | 26% |
Unknown | 20 | 21% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 30 | 31% |
Biochemistry, Genetics and Molecular Biology | 13 | 14% |
Agricultural and Biological Sciences | 9 | 9% |
Neuroscience | 5 | 5% |
Computer Science | 4 | 4% |
Other | 12 | 13% |
Unknown | 23 | 24% |