ホロカルボキシラーゼ
UpToDate Contents
全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.
- 1. 有機酸血症：概要および具体的な疾患organic acidemias an overview and specific defects [show details]
…(3-MGA) Multiple carboxylase deficiency (inborn errors of biotin metabolism), including holocarboxylase synthetase deficiency and biotinidase deficiency Glutaric acidemia type 1 (GA1) Patients …
- 2. 遺伝性運動失調の概要overview of the hereditary ataxias [show details]
…myoclonus, and nystagmus . The infantile form can be caused by a variety of mutations in the holocarboxylase synthetase gene at locus 21q22 . This enzyme catalyzes the fixation of biotin to inactive apocarboxylases…
- 3. 水溶性ビタミンの概要overview of water soluble vitamins [show details]
…two inherited defects of biotin metabolism. The infantile form is caused by a deficiency of holocarboxylase synthetase (HCS) and presents in the first week of life with lethargy, poor muscle tone, and …
- 4. 新生児および乳児の紅皮症 neonatal and infantile erythroderma [show details]
…carbamoyl phosphate synthetase deficiency, cystic fibrosis, essential fatty acid deficiency, holocarboxylase synthetase deficiency, and biotinidase deficiency. Acute graft-versus-host disease (GVHD)…
- 5. 先天性代謝異常：代謝性救急疾患inborn errors of metabolism metabolic emergencies [show details]
…disorders; Pyridoxine and pyridoxal-5-phosphate-responsive seizures; Biotinidase deficiency/holocarboxylase synthetase deficiency; Nonketotic hyperglycinemia; Molybdenum cofactor deficiency and isolated…
English Journal
- Holocarboxylase Synthetase: A Moonlighting Transcriptional Coregulator of Gene Expression and a Cytosolic Regulator of Biotin Utilization.
- León-Del-Río A1, Valadez-Graham V2, Gravel RA3.
- Annual review of nutrition.Annu Rev Nutr.2017 May 31. doi: 10.1146/annurev-nutr-042617-104653. [Epub ahead of print]
- PMID 28564555
- Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).
- Balasubramaniam S1,2,3, Lewis B4, Mock DM5, Said HM6, Tarailo-Graovac M7, Mattman A8, van Karnebeek CD9, Thorburn DR10,11, Rodenburg RJ12, Christodoulou J10,11.
- JIMD reports.JIMD Rep.2017;33:99-107. doi: 10.1007/8904_2016_559. Epub 2016 Jul 22.
- PMID 27450367
- Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency.
- Quinonez SC1, Seeley AH2, Lam C3, Glover TW4,1,3, Barshop BA5, Keegan CE6,7,8.
- JIMD reports.JIMD Rep.2016 Aug 13. [Epub ahead of print]
- PMID 27518780
Japanese Journal
- ビオチンと臨床(<特集>第65回大会シンポジウム「臨床とビタミンUp-Date」)
- 栄養性ビオチン欠乏症と先天性ビオチン代謝異常症の疫学
- A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy
Related Links
- Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by ...
- Suzuki et al. (1994) cloned a human holocarboxylase synthetase cDNA and showed that antiserum against the recombinant protein immunoprecipitated the enzyme. Human HLCS shows homology with E. coli BirA, which acts as ...
- 253270 - HOLOCARBOXYLASE SYNTHETASE DEFICIENCY - HLCS DEFICIENCY;; MULTIPLE CARBOXYLASE DEFICIENCY, NEONATAL FORM;; MULTIPLE CARBOXYLASE DEFICIENCY, EARLY ...