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- 鈴木 洋一
- 東北大学東北メディカル・メガバンク機構人材育成部門遺伝疫学研究支援分野
書誌事項
- タイトル別名
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- Biotin responsive metabolic and neurological diseases
- ビオチンと臨床
- ビオチン ト リンショウ
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抄録
Biotin is a water-soluble vitamin and a cofactor of several types of carboxylases. Insufficient intake of biotin and a congenital deficiency of enzymes that are required for biotin to act in the cell cause clinical symptoms called multiple carboxylase deficiency (MCD). In recent years, there have been several reports of infants with food allergy and/or atopic eczema who developed MCD after being fed with peptide formula. We investigated the incidence of nutritional biotin deficiency and congenital enzyme deficiency in Japan. For the estimated incidence of biotin deficiency, there were at least 70 cases in the last 10 years. Since the first diagnosis of holocarboxylase synthetase deficiency (HCSD) in 1982, HCSD and biotinidase deficiency were confirmed in 28 and 2 cases, respectively. These data suggest that the incidence of congenital enzyme deficiency is about 1 case per year. Biotin-responsive basal ganglia disease (BBGD) is an encephalopathy of children whose symptoms are ameliorated by biotin administration. Mutations in the SLC19A3 gene were identified in the patients. SLC19A3 shows transporter activity for thiamin but not for biotin. The mechanism of biotin-responsiveness in BBGD is not yet elucidated. Further, patients with Leigh-like syndromes have been shown to have mutations in this gene. Currently, the relationship between biotin and SLC19A3 is largely unknown.
収録刊行物
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- ビタミン
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ビタミン 88 (1), 31-35, 2014
公益社団法人 日本ビタミン学会
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詳細情報 詳細情報について
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- CRID
- 1390282680676807168
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- NII論文ID
- 110009767430
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- NII書誌ID
- AN00207833
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- ISSN
- 2424080X
- 0006386X
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- NDL書誌ID
- 025170614
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- 本文言語コード
- ja
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- データソース種別
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- JaLC
- NDL
- CiNii Articles
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- 抄録ライセンスフラグ
- 使用不可