SCOT deficiency

同

succinyl CoA:3-ketoacid CoA transferase

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1. 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/02/02 22:37:39」(JST)

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Succinyl-CoA:3-oxoacid CoA transferase deficiency
Classification and external resources
OMIM	245050

Succinyl-CoA:3-oxoacid CoA transferase deficiency is an inborn error of ketone body utilization. Succinyl-CoA:3-oxoacid CoA transferase catalyzes the transfer of Coenzyme A from Succinyl-Coenzyme A to acetoacetate. It can be caused by mutation in the OXCT1 gene.

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• 1. IgG サブクラス欠乏症 igg subclass deficiency
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• 3. アデノシンデアミナーゼ欠損症：治療 adenosine deaminase deficiency treatment
• 4. 免疫不全症を引き起こすミエロペルオキシダーゼ欠損症および酵素白血球欠損症 myeloperoxidase deficiency and other enzymatic wbc defects causing immunodeficiency
• 5. 補体系の遺伝性疾患 inherited disorders of the complement system

English Journal

• Ketone body metabolism and its defects.

• Fukao T1, Mitchell G, Sass JO, Hori T, Orii K, Aoyama Y.
• Journal of inherited metabolic disease.J Inherit Metab Dis.2014 Jul;37(4):541-51. doi: 10.1007/s10545-014-9704-9. Epub 2014 Apr 8.
• Acetoacetate (AcAc) and 3-hydroxybutyrate (3HB), the two main ketone bodies of humans, are important vectors of energy transport from the liver to extrahepatic tissues, especially during fasting, when glucose supply is low. Blood total ketone body (TKB) levels should be evaluated in the context of c
• PMID 24706027

• A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.

• Shafqat N1, Kavanagh KL, Sass JO, Christensen E, Fukao T, Lee WH, Oppermann U, Yue WW.
• Journal of inherited metabolic disease.J Inherit Metab Dis.2013 Nov;36(6):983-7. doi: 10.1007/s10545-013-9589-z. Epub 2013 Feb 19.
• Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare inherited metabolic disorder of ketone metabolism, characterized by ketoacidotic episodes and often permanent ketosis. To date there are ~20 disease-associated alleles on the OXCT1 gene that encodes the mitochondrial enzyme SCOT. SC
• PMID 23420214

• Molecular basis of two-exon skipping (exons 12 and 13) by c.1248+5g>a in OXCT1 gene: study on intermediates of OXCT1 transcripts in fibroblasts.

• Hori T1, Fukao T, Murase K, Sakaguchi N, Harding CO, Kondo N.
• Human mutation.Hum Mutat.2013 Mar;34(3):473-80. doi: 10.1002/humu.22258. Epub 2013 Jan 22.
• The molecular basis of simultaneous two-exon skipping induced by a splice-site mutation has yet to be completely explained. The splice donor site mutation c.1248+5g>a (IVS13) of the OXCT1 gene resulted predominantly in skipping of exons 12 and 13 in fibroblasts from a patient (GS23) with succinyl
• PMID 23281106

Japanese Journal

• Differential Effects of Two Types of Obesity on Ketone Body Utilization in Skeletal Muscle

• Narishima Ryota,Yamasaki Masahiro,Yoshida Saki,Hasegawa Shinya,Fukui Tetsuya
• JOURNAL OF HEALTH SCIENCE 57(1), 93-98, 2011
• … AACS mRNA expression was decreased in the skeletal muscle of leptin-deficiency-induced obese rats. … The expression level of succinyl-CoA: 3-oxoacid CoA-transferase (SCOT), another enzyme that induces ketone body consumption, was not changed in C2C12 cells. …
• NAID 130000425129

• A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA : 3-ketoacid CoA transferase (SCOT) deficiency

• FUKAO T
• Mol Genet Metab 89, 280-282, 2006
• NAID 30018902849

Related Links

• SCOT deficiency | Disease | Overview | Office of Rare ...

SCOT deficiency is a metabolic disease that is caused by reduced or missing levels of 3-ketoacid CoA transferase. This enzyme is necessary for the body to use ketones. Ketones are substances produced when fat ...

• SCOT deficiency - RightDiagnosis.com - Right Diagnosis

SCOT deficiency symptoms, causes, diagnosis, and treatment information for SCOT deficiency (Succinyl-CoA acetoacetate transferase deficiency) with alternative diagnoses, full-text book chapters, misdiagnosis, research ...

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関連記事	「deficiency」「SC」

「deficiency」

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• n.

• 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
• 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの

関

absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve

　

「SC」

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• 分泌成分 secretory component
• 皮下の subcutaneous
• systemic candidiasis