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3-羟基-3-甲基戊二酸尿症，合并3-甲基戊烯二酸尿症。

3-Hydroxy-3-methylglutaric aciduria, combined with 3-methylglutaconic aciduria.

作者信息

Wysocki S J, Wilkinson S P, Hähnel R, Wong C Y, Panegyres P K

出版信息

Clin Chim Acta. 1976 Aug 2;70(3):399-406. doi: 10.1016/0009-8981(76)90353-3.

DOI:10.1016/0009-8981(76)90353-3
PMID:947633
Abstract
  1. A baby with severe metabolic acidosis was found to excrete abnormal amounts of 3-methylcrotonic acid, 3-methylglutaconic acid and 3-hydroxy-3-methylglutaric acid in urine. 2. Several other abnormal constitutents appear to be products of side-reactions and include 3-hydroxy-3-methylbutyric acid and 3-methylglutaric acid. 3. The profile of acids in urine indicates a blockage in the sixth step of leucine catabolism, the cleavage of 3-hydroxy-3-methylglutaryl-CoA to acetoacetic acid and acetyl-CoA.
摘要
  1. 一名患有严重代谢性酸中毒的婴儿被发现尿液中排泄异常量的3-甲基巴豆酸、3-甲基戊烯二酸和3-羟基-3-甲基戊二酸。2. 其他几种异常成分似乎是副反应的产物，包括3-羟基-3-甲基丁酸和3-甲基戊二酸。3. 尿液中的酸谱表明亮氨酸分解代谢第六步存在阻断，即3-羟基-3-甲基戊二酰辅酶A裂解为乙酰乙酸和乙酰辅酶A。

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3-Hydroxy-3-methylglutaric aciduria, combined with 3-methylglutaconic aciduria.3-羟基-3-甲基戊二酸尿症，合并3-甲基戊烯二酸尿症。
Clin Chim Acta. 1976 Aug 2;70(3):399-406. doi: 10.1016/0009-8981(76)90353-3.
2
3-Hydroxy-3-methylglutaric aciduria: response to carnitine therapy and fat and leucine restriction.3-羟基-3-甲基戊二酸尿症：对肉碱治疗以及脂肪和亮氨酸限制的反应
J Inherit Metab Dis. 1987;10(2):142-6. doi: 10.1007/BF01800039.
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3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency.一名疑似3-甲基戊二酰辅酶A水合酶缺乏症患者的3-甲基戊烯二酸和3-甲基戊二酸尿症
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The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria.与3-羟基-3-甲基戊二酸尿症相关的尿有机酸谱。
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Gas-chromatographic/mass spectrometric detection of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in double first cousins.气相色谱/质谱法检测双重一级表亲中的3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症。
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GC/MS analysis of urine in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症患者尿液的气相色谱/质谱分析
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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
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Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria.3-甲基戊二酸尿症综合征中的表型异质性。
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A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency.1例新生儿3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症
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Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.肥厚型心肌病、白内障、发育迟缓、乳酸酸中毒：3-甲基戊二酸尿症的一种新型亚型
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引用本文的文献

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Metabolic origin and significance of 3-methylglutaryl CoA.3-甲基戊二酰辅酶A的代谢起源及意义
Clin Chim Acta. 2025 Jun 15;574:120320. doi: 10.1016/j.cca.2025.120320. Epub 2025 Apr 17.
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Disorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genes.磷脂代谢紊乱：一类由于核基因突变导致的新兴线粒体疾病。
Front Genet. 2015 Feb 3;6:3. doi: 10.3389/fgene.2015.00003. eCollection 2015.
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Increased oxidative stress in patients with 3-hydroxy-3-methylglutaric aciduria.3-羟基-3-甲基戊二酸尿症患者氧化应激增加。
Mol Cell Biochem. 2015 Apr;402(1-2):149-55. doi: 10.1007/s11010-014-2322-x. Epub 2015 Jan 4.
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Molecular basis of 3-hydroxy-3-methylglutaric aciduria.3-羟基-3-甲基戊二酸尿症的分子基础
J Physiol Biochem. 2003 Dec;59(4):311-21. doi: 10.1007/BF03179889.
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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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CT findings in a case of deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase.3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症一例的CT表现
Neuroradiology. 1981;22(2):99-101. doi: 10.1007/BF00344781.
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Clinical and biochemical observations on a child with a deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase.一名3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症患儿的临床及生化观察
J Inherit Metab Dis. 1980;3(3):89-90. doi: 10.1007/BF02312535.
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3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients.3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症：18例报告患者的综述
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3-Hydroxy-3-methylglutaric aciduria: response to carnitine therapy and fat and leucine restriction.3-羟基-3-甲基戊二酸尿症：对肉碱治疗以及脂肪和亮氨酸限制的反应
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