title: Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing.
abstract: Using whole exome sequencing, we confirmed a diagnosis of biotin-responsive basal ganglia disease (BBGD) accompanied by possible Kawasaki Disease. BBGD is an autosomal-recessive disease arising from a mutation of the SLC19A3 gene encoding the human thiamine transporter 2 protein, and usually manifests as subacute to acute encephalopathy. In this case, compound heterozygous mutations of SLC19A3, including a de novo mutation in one allele, was the cause of disease. Although a large number of genetic neural diseases have no efficient therapy, there are several treatable genetic diseases, including BBGD. However, to achieve better outcome and accurate diagnosis, therapeutic analysis and examination for disease confirmation should be done simultaneously. We encountered a case of possible Kawasaki disease, which had progressed to BBGD caused by an extremely rare genetic condition. Although the prevalence of BBGD is low, early recognition of this disease is important because effective improvement can be achieved by early biotin and thiamine supplementation.
authors: 1] Department of Pediatrics, Japanese Red Cross Kumamoto Hospital, Kumamoto, Japan [2] Department of Pediatrics, Kumamoto University Graduate School of Medical Sciences, Kumamoto, Japan.
authors: Kensaku
authors: K
authors: Kohrogi
authors: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors: Eri
authors: E
authors: Imagawa
authors: Department of Pediatrics, Japanese Red Cross Kumamoto Hospital, Kumamoto, Japan.
authors: Yuichiro
authors: Y
authors: Muto
authors: Department of Pediatrics, Japanese Red Cross Kumamoto Hospital, Kumamoto, Japan.
authors: Katsuki
authors: 0000000327682489
authors: K
authors: Hirai
authors: Department of Pediatrics, Japanese Red Cross Kumamoto Hospital, Kumamoto, Japan.
authors: Masahiro
authors: M
authors: Migita
authors: Department of Pediatrics, Kumamoto University Graduate School of Medical Sciences, Kumamoto, Japan.
authors: Hiroshi
authors: H
authors: Mitsubuchi
authors: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors: Noriko
authors: N
authors: Miyake
authors: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors: Naomichi
authors: N
authors: Matsumoto
authors: Department of Pediatrics, Kumamoto University Graduate School of Medical Sciences, Kumamoto, Japan.
authors: Kimitoshi
authors: K
authors: Nakamura
authors: Department of Pediatrics, Kumamoto University Graduate School of Medical Sciences, Kumamoto, Japan.
authors: Fumio
authors: F
authors: Endo
mesh_terms: D001480:Basal Ganglia Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D001710:Biotin / Q000627:therapeutic use*; D004252:DNA Mutational Analysis; D059472:Exome; D006801:Humans; D007223:Infant; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics; D025202:Molecular Diagnostic Techniques; D009080:Mucocutaneous Lymph Node Syndrome / Q000175:diagnosis* / Q000188:drug therapy
chemical_list: D026901:Membrane Transport Proteins; C492291:SLC19A3 protein, human; D001710:Biotin