Journal ArticleDOI
Biotin-Responsive Basal Ganglia Disease in Ethnic Europeans With Novel SLC19A3 Mutations
Rabab Debs,Christel Depienne,Agnès Rastetter,Agnès Bellanger,Bertrand Degos,Damien Galanaud,Boris Keren,Olivier Lyon-Caen,Alexis Brice,Frédéric Sedel +9 more
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TLDR
This study demonstrates that biotin-responsive basal ganglia disease is a panethnic condition and a therapeutic trial with high doses of biotin and thiamine seems mandatory in every unexplained encephalopathy with bilateral lesions of putamen and caudate nuclei.Abstract:
OBJECTIVE: To report the first 2 European cases of biotin-responsive basal ganglia disease and novel SLC19A3 mutations. DESIGN: Case reports. SETTING: University hospital. Patients A 33-year-old man and his 29-year-old sister, both of Portuguese ancestry, presented with recurrent episodes of encephalopathy. Between episodes patients exhibited generalized dystonia, epilepsy, and bilateral hyperintensities of the caudate and putamen. MAIN OUTCOME MEASURES: Clinical and radiologic findings. RESULTS: Administration of high doses of biotin or of a combination of biotin and thiamine during encephalopathies resulted in spectacular clinical and radiologic improvement in both patients. Sequencing of the SLC19A3 disclosed 2 novel mutations, both of which created premature stop codons in the protein sequence of hTHTR2. CONCLUSION: This study demonstrates that biotin-responsive basal ganglia disease is a panethnic condition. A therapeutic trial with high doses of biotin and thiamine seems mandatory in every unexplained encephalopathy with bilateral lesions of putamen and caudate nuclei.read more
Citations
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Journal ArticleDOI
SLC transporters as therapeutic targets: emerging opportunities
TL;DR: Current and investigational drugs that modulate SLC transporters, as well as promising drug targets, are highlighted.
Book ChapterDOI
Disorders of Biotin Metabolism
TL;DR: This chapter will discuss biotin-responsive disorders, which are inherited as an autosomal recessive trait and can be improved or prevented by early detection and treatment with pharmacological doses of biotin.
Journal ArticleDOI
A guide to diagnosis and treatment of Leigh syndrome
Fabian Baertling,Richard J. Rodenburg,Jörg Schaper,Jan A.M. Smeitink,Werner J.H. Koopman,Ertan Mayatepek,Eva Morava,Felix Distelmaier +7 more
TL;DR: The most important clinical aspects of Leigh syndrome are reviewed, and diagnostic steps as well as treatment options are discussed.
Journal ArticleDOI
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases
Majid Alfadhel,Majid Alfadhel,Makki Almuntashri,Makki Almuntashri,Raafat H Jadah,Fahad A. Bashiri,Muhammad Talal Al Rifai,Muhammad Talal Al Rifai,Hisham Al Shalaan,Hisham Al Shalaan,Mohammed Al Balwi,Mohammed Al Balwi,Ahmed Al Rumayan,Ahmed Al Rumayan,Wafaa Eyaid,Wafaa Eyaid,Waleed Al-Twaijri,Waleed Al-Twaijri +17 more
TL;DR: Clinicians should suspect BBGD in any child presenting with sub acute encephalopathy, abnormal movement and MRI findings as described above, and both biotin and thiamine are essential for disease management.
Journal ArticleDOI
Hypoxia treatment reverses neurodegenerative disease in a mouse model of Leigh syndrome
Michele Ferrari,Isha H. Jain,Olga Goldberger,Olga Goldberger,Emanuele Rezoagli,Robrecht Thoonen,Kai-Hung Cheng,David E. Sosnovik,Marielle Scherrer-Crosbie,Vamsi K. Mootha,Warren M. Zapol +10 more
TL;DR: It is shown that breathing normobaric 11% O2 in mice with late-stage encephalopathy reverses their established neurological disease, evidenced by improved behavior, circulating disease biomarkers, and survival rates.
References
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Journal ArticleDOI
Biotin-responsive Basal Ganglia Disease Maps to 2q36.3 and Is Due to Mutations in SLC19A3
Wenqi Zeng,Eiman Al-Yamani,James S. Acierno,Susan A. Slaugenhaupt,Tammy Gillis,Marcy E. MacDonald,Pinar T. Ozand,James F. Gusella +7 more
TL;DR: Using linkage analysis in four families, the genetic defect near marker D2S2158 in 2q36 was mapped to a minimum candidate region (approximately 2 Mb) between D 2S2354 and D2 S1256, on the basis of complete homozygosity.
Journal ArticleDOI
Biotin-responsive basal ganglia disease: a novel entity.
Pinar Ozand,Generoso G. Gascon,M Al Essa,S Joshi,E. Al. Jishi,S Bakheet,J Al Watban,M Z Al-Kawi,O Dabbagh +8 more
TL;DR: Although its aetiology is unknown, it is important to recognize this disease, since its symptoms may be reversed and the progression of its clinical course prevented simply by providing biotin.
Journal ArticleDOI
Regulation of gene expression by biotin☆ (review)
TL;DR: Observations that biotin metabolites that have been considered "metabolic waste" in previous studies might have biotin-like activities are likely to lead to a better understanding of roles for biotin in cell biology and fetal development.
Journal ArticleDOI
SLC19A3 encodes a second thiamine transporter ThTr2
TL;DR: The function of SLC19A3, another member of this transporter family most recently cloned, is described after transient transfection of the cDNA into HeLa cells and it is indicated that this carrier has a high degree of specificity for vitamin B1.
Journal ArticleDOI
Biological functions of biotinylated histones.
Naga Rama Kothapalli,Gabriela Camporeale,Alice Kueh,Yap Ching Chew,Anna M. Oommen,Jacob B. Griffin,Janos Zempleni +6 more
TL;DR: A novel peptide-based technique was used to identify eight distinct biotinylation sites in histones H2A, H3 and H4, and evidence was provided that biOTinylation of histones plays a role in cell proliferation, gene silencing and cellular response to DNA damage.
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Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases
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