Biotin-Responsive Basal Ganglia Disease: Case Report and Review of the Literature

Abstract

Biotin-responsive basal ganglia disease is a rare entity of which 10 cases have been reported in the literature. We report a case of biotin-responsive basal ganglia disease with similarities and differences compared to the previously reported cases by Ozand et al. Our case presented much earlier, was milder and responded better to lower doses of biotin, compared to the cases reported previously. Since our case showed differences with those in the literature, it might represent a new entity or a milder form of the same entity.

Key words

biotin - biotin-responsive basal ganglia disease - globi pallidi

References

• 1 Aoki Y, Suzuki Y, Sakamoto O. et al . Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients.  Biochim Biophys Acta. 1995;  1272 168-174
• 2 Dupuis L, Leon-Del-Rio A, Leclerc D. et al . Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.  Hum Mol Genet. 1996;  5 1011-1016
• 3 Moss J, Lane MD. The biotin-dependent enzymes.  Adv Enzymol Relat Areas Mol Biol. 1997;  35 321-442
• 4 Narisawa K, Suzuki Y, Aoki Y. Cloning of the holocarboxylase synthetase cDNA and identification of mutations prevalent in Japanese HCS-deficient patients.  Nippon Rinsho. 1996;  54 259-267
• 5 Ozand PT, Gascon GG, Al Essa M. et al . Biotin-responsive basal ganglia disease: a novel entity.  Brain. 1998;  121 1267-1279
• 6 Pomponio RJ, Reynolds TR, Cole H. et al . Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency.  Nat Genet. 1995;  11 96-98
• 7 Rajgopal A, Edmondnson A, Goldman ID. et al . SLC19A3 encodes a second thiamine transporter ThTr2.  Biochim Biophys Acta. 2001;  1537 175-178
• 8 Roig M, Macaya A, Munell F. et al . Acute neurologic dysfunction associated with destructive lesions of the basal ganglia: a benign form of infantile bilateral striatal necrosis.  J Pediatr. 1990;  117 578-581
• 9 Straussberg R, Shorer Z, Weitz R. et al . Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment.  Neurology. 2002;  59 983-989
• 10 Suzuki Y, Aoki Y, Ishida Y. et al . Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA.  Nat Genet. 1994;  8 122-128
• 11 Zeng WQ, Al-Yamani E, Acierno  Jr  JS. et al . Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.  Am J Hum Genet. 2005;  77 16-26

Correspondence