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Cerebral infarction and pancreatitis: possible complications of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

作者信息

Muroi J, Yorifuji T, Uematsu A, Nakahata T

机构信息

Department of Pediatrics, Kyoto University Hospital, Japan.

出版信息

J Inherit Metab Dis. 2000 Sep;23(6):636-7. doi: 10.1023/a:1005642316174.

DOI:10.1023/a:1005642316174
PMID:11032339
Abstract
摘要

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1
Cerebral infarction and pancreatitis: possible complications of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
J Inherit Metab Dis. 2000 Sep;23(6):636-7. doi: 10.1023/a:1005642316174.
2
A child with acute pancreatitis and recurrent hypoglycemia due to 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.一名患有急性胰腺炎且因3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症而反复出现低血糖的儿童。
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3
3-hydroxy-3-methylglutaric aciduria: a new assay of 3-hydroxy-3-methylglutaryl-coa lyase using high performance liquid chromatography.3-羟基-3-甲基戊二酸尿症：一种使用高效液相色谱法检测3-羟基-3-甲基戊二酰辅酶A裂解酶的新方法。
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4
Studies on a child suspected of having a dficiency in 3-hydroxy-3-methylglutaryl-Co A lyase.
Clin Chim Acta. 1979 Jul 2;95(1):11-16. doi: 10.1016/0009-8981(79)90330-9.
5
3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection.3-甲基戊二酰辅酶A水合酶、3-甲基巴豆酰辅酶A羧化酶和3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症：一种有助于其检测的偶联酶测定法。
Clin Chim Acta. 1989 Sep 15;184(1):57-64. doi: 10.1016/0009-8981(89)90256-8.
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Enzymatic diagnosis of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency with high-performance liquid chromatography.高效液相色谱法对3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症的酶学诊断
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Genetic complementation analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency in cultured fibroblasts.培养成纤维细胞中3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症的基因互补分析
Am J Hum Genet. 1984 Jul;36(4):791-801.
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Hypertriglyceridemia may contribute to stroke and pancreatitis: A case report and review of the literature.

本文引用的文献

1
Stroke-like encephalopathy in an infant with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
Eur J Pediatr. 1998 Sep;157(9):743-6. doi: 10.1007/s004310050927.
2
A child with acute pancreatitis and recurrent hypoglycemia due to 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.一名患有急性胰腺炎且因3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症而反复出现低血糖的儿童。
Eur J Pediatr. 1984 Sep;142(4):289-91. doi: 10.1007/BF00540255.
3
3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia.沙特阿拉伯的3-羟基-3-甲基戊二酰辅酶A（HMG-CoA）裂解酶缺乏症。
高甘油三酯血症可导致卒中与胰腺炎：病例报告与文献复习。
Front Endocrinol (Lausanne). 2022 Dec 1;13:960343. doi: 10.3389/fendo.2022.960343. eCollection 2022.
4
Pancreatic involvement in patients with inborn errors of metabolism.先天性代谢缺陷患者的胰腺受累。
Orphanet J Rare Dis. 2021 Jan 20;16(1):37. doi: 10.1186/s13023-021-01685-9.
5
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces.3-羟-3-甲基戊二酰辅酶 A 裂解酶缺乏症：一种疾病，多种表现。
Orphanet J Rare Dis. 2020 Feb 14;15(1):48. doi: 10.1186/s13023-020-1319-7.
6
Acute pancreatitis is a very rare comorbidity of acute ischemic stroke.急性胰腺炎是急性缺血性卒中一种非常罕见的合并症。
J Rural Med. 2018 May;13(1):72-75. doi: 10.2185/jrm.2956. Epub 2018 May 29.
7
Management and long-term evolution of a patient with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症患者的管理与长期演变
Ital J Pediatr. 2017 Jan 19;43(1):12. doi: 10.1186/s13052-017-0333-4.
8
Induction of a Proinflammatory Response in Cortical Astrocytes by the Major Metabolites Accumulating in HMG-CoA Lyase Deficiency: the Role of ERK Signaling Pathway in Cytokine Release.HMG-CoA裂解酶缺乏症中积累的主要代谢产物诱导皮质星形胶质细胞产生促炎反应：ERK信号通路在细胞因子释放中的作用
Mol Neurobiol. 2016 Aug;53(6):3586-3595. doi: 10.1007/s12035-015-9289-9. Epub 2015 Jun 23.
9
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.
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Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria.人组织中差异的 HMG-CoA 裂解酶表达为 3-羟基-3-甲基戊二酸尿症提供线索。
J Inherit Metab Dis. 2010 Aug;33(4):405-10. doi: 10.1007/s10545-010-9097-3. Epub 2010 Jun 8.
J Inherit Metab Dis. 1991;14(2):174-88. doi: 10.1007/BF01800590.