A new case of succinyl-CoA: acetoacetate transferase deficiency.

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作者信息

Pérez-Cerdá C, Merinero B, Sanz P, Jiménez A, Hernández C, García M J, Ugarte M

机构信息

Centro de Diagnóstico de Enfermedades Moleculares, Facultad de Ciencias, Universidad Autónoma, Madrid, Spain.

出版信息

J Inherit Metab Dis. 1992;15(3):371-3. doi: 10.1007/BF02435979.

DOI:10.1007/BF02435979

PMID:1405472

Abstract

摘要

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A new case of succinyl-CoA: acetoacetate transferase deficiency.

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Inborn errors of ketone body utilization.酮体利用的先天性缺陷。

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Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature.琥珀酰辅酶A：乙酰乙酸转移酶缺乏症：一例新生儿发病新患者的鉴定及文献复习

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Prenatal diagnosis of succinyl-coenzyme A:3-ketoacid coenzyme A transferase deficiency.琥珀酰辅酶A：3-酮酸辅酶A转移酶缺乏症的产前诊断

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When one disease is not enough: succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1 in an infant with known phenylketonuria.一种疾病还不够：一名已知患有苯丙酮尿症的婴儿因OXCT1基因的新突变导致琥珀酰辅酶A：3-氧代酸辅酶A转移酶（SCOT）缺乏症。

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引用本文的文献

A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the Gene.14个月大女性因琥珀酰辅酶A：3-氧代酸辅酶A转移酶缺乏症伴严重酸中毒病例：基因点突变致病性的证据

J Pediatr Intensive Care. 2018 Mar;7(1):62-66. doi: 10.1055/s-0037-1604270. Epub 2017 Jul 19.

Yonsei Med J. 2019 Mar;60(3):308-311. doi: 10.3349/ymj.2019.60.3.308.

Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.琥珀酰辅酶 A：3-氧代酸辅酶 A 转移酶缺乏症的杂合子携带者可能会发生严重的酮症酸中毒。

J Inherit Metab Dis. 2017 Nov;40(6):845-852. doi: 10.1007/s10545-017-0065-z. Epub 2017 Jul 10.

Ketone body metabolism and its defects.酮体代谢及其缺陷。

J Inherit Metab Dis. 2014 Jul;37(4):541-51. doi: 10.1007/s10545-014-9704-9. Epub 2014 Apr 8.

A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene.一名新生儿起病的琥珀酰辅酶 A:3-酮酸辅酶 A 转移酶（SCOT）缺陷患者，OXCT1 基因中存在 T435N 和 c.658-666dupAACGTGATT p.N220_I222dup 突变。

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S307-13. doi: 10.1007/s10545-010-9168-5. Epub 2010 Jul 21.

Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency.严重琥珀酰辅酶A：3-氧代酸辅酶A转移酶缺乏症中的新生儿低血糖症。

J Inherit Metab Dis. 2001 Oct;24(5):587-95. doi: 10.1023/a:1012419911789.

J Inherit Metab Dis. 1996;19(3):296-300. doi: 10.1007/BF01799257.

Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient.琥珀酰辅酶A：3-氧代酸辅酶A转移酶（SCOT）：人类cDNA克隆、人类染色体定位于5p13以及SCOT缺陷患者的突变检测。

Am J Hum Genet. 1996 Sep;59(3):519-28.

A new Japanese case of succinyl-CoA: 3-ketoacid CoA-transferase deficiency.一例新的日本琥珀酰辅酶A：3-酮酸辅酶A转移酶缺乏症病例。

J Inherit Metab Dis. 1995;18(3):323-5. doi: 10.1007/BF00710423.

本文引用的文献

The oxoacyl-coenzyme A thiolases of animal tissues.动物组织中的氧代酰基辅酶A硫解酶

Biochem J. 1973 Apr;132(4):717-30. doi: 10.1042/bj1320717.

Succinyl-CoA: 3-ketoacid CoA-transferase deficiency. A cause for ketoacidosis in infancy.琥珀酰辅酶A：3-酮酸辅酶A转移酶缺乏症。婴儿期酮症酸中毒的一个病因。

J Clin Invest. 1972 Mar;51(3):493-8. doi: 10.1172/JCI106837.

3-Ketothiolase deficiency.3-酮硫解酶缺乏症

Eur J Pediatr. 1986 Apr;144(6):586-9. doi: 10.1007/BF00496042.

Hyperketotic states due to inherited defects of ketolysis.

Enzyme. 1987;38(1-4):80-90. doi: 10.1159/000469194.

Acetoacetyl CoA thiolase deficiency presenting as ketotic hypoglycemia.

Pediatr Res. 1987 Feb;21(2):211-3. doi: 10.1203/00006450-198702000-00020.

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