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Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency.

作者信息

Gibson K M, Wappner R S, Jooste S, Erasmus E, Mienie L J, Gerlo E, Desprechins B, De Meirleir L

机构信息

Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas, USA.

出版信息

J Inherit Metab Dis. 1998 Aug;21(6):631-8. doi: 10.1023/a:1005476315892.

DOI:10.1023/a:1005476315892
PMID:9762598
Abstract
摘要

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Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency.三名3-甲基戊二酰辅酶A水合酶缺乏症患者的临床表现各异。
J Inherit Metab Dis. 1998 Aug;21(6):631-8. doi: 10.1023/a:1005476315892.
2
[3-Methylglutaconyl-CoA hydratase deficiency].
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3-Methylglutaconyl-coenzyme-A hydratase deficiency: a new case.
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Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria.两名患有3-甲基戊二酸尿症的同胞中3-甲基戊二酰辅酶A水合酶缺乏症
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3-Methylglutaconyl-CoA hydratase deficiency: a new patient with speech retardation as the leading sign.3-甲基戊二酰辅酶A水合酶缺乏症：一名以言语发育迟缓为主要症状的新患者。
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引用本文的文献

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3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis.3-甲基戊二酰辅酶A水合酶缺乏症：当确诊偏倚混淆生化诊断时。
JIMD Rep. 2022 Sep 14;63(6):568-574. doi: 10.1002/jmd2.12332. eCollection 2022 Nov.
2
3-Methylglutaconic Aciduria Type I Due to Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature.3-甲基戊二酸尿症 I 型伴缺陷：诊断曲折的病例报告及文献复习。
Int J Mol Sci. 2022 Apr 16;23(8):4422. doi: 10.3390/ijms23084422.
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[Newborn screening as a predictive genetic test: principles and challenges].

本文引用的文献

1
3-Methylglutaconic aciduria presenting as Reye syndrome in a Chinese boy.
J Inherit Metab Dis. 1995;18(5):645-6. doi: 10.1007/BF02436015.
2
Multiple syndromes of 3-methylglutaconic aciduria.3-甲基戊二酸尿症的多种综合征
Pediatr Neurol. 1993 Mar-Apr;9(2):120-3. doi: 10.1016/0887-8994(93)90046-f.
3
The detection of 3-methylglutarylcarnitine and a new dicarboxylic conjugate, 3-methylglutaconylcarnitine, in 3-methylglutaconic aciduria.在3-甲基戊二酸尿症中对3-甲基戊二酰肉碱和一种新的二羧酸共轭物——3-甲基戊烯二酰肉碱的检测。
[作为预测性基因检测的新生儿筛查：原则与挑战]
Wien Med Wochenschr. 2012 Apr;162(7-8):168-75. doi: 10.1007/s10354-012-0062-7. Epub 2012 Mar 28.
4
The 3-methylglutaconic acidurias: what's new?3-甲基戊烯二酸尿症：有哪些新进展？
J Inherit Metab Dis. 2012 Jan;35(1):13-22. doi: 10.1007/s10545-010-9210-7. Epub 2010 Sep 30.
5
3-methyglutaconic aciduria in a Chinese patient with glycogen storage disease Ib.
J Inherit Metab Dis. 2003;26(7):705-9. doi: 10.1023/b:boli.0000005603.04633.21.
6
3-Methylglutaconic aciduria type I is caused by mutations in AUH.I型3-甲基戊二酸尿症由AUH基因突变引起。
Am J Hum Genet. 2002 Dec;71(6):1463-6. doi: 10.1086/344712. Epub 2002 Nov 14.
7
3-Methylglutaconyl-CoA hydratase deficiency: a new patient with speech retardation as the leading sign.3-甲基戊二酰辅酶A水合酶缺乏症：一名以言语发育迟缓为主要症状的新患者。
J Inherit Metab Dis. 2000 Jun;23(4):341-4. doi: 10.1023/a:1005670911799.
Clin Chim Acta. 1994 Oct 14;230(1):1-8. doi: 10.1016/0009-8981(94)90083-3.
4
Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
J Inherit Metab Dis. 1994;17(3):291-4. doi: 10.1007/BF00711810.
5
Inherited 3-methylglutaconic aciduria in two brothers--another defect of leucine metabolism.两兄弟患遗传性3-甲基戊二酸尿症——亮氨酸代谢的又一缺陷
J Pediatr. 1982 Oct;101(4):551-4. doi: 10.1016/s0022-3476(82)80698-7.
6
Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria.两名患有3-甲基戊二酸尿症的同胞中3-甲基戊二酰辅酶A水合酶缺乏症
J Clin Invest. 1986 Apr;77(4):1148-52. doi: 10.1172/JCI112415.
7
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.
8
3-Methylglutaconyl-coenzyme-A hydratase deficiency: a new case.
J Inherit Metab Dis. 1992;15(3):363-6. doi: 10.1007/BF02435977.