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Massive excretion of 2-oxoglutaric acid and 3-hydroxyisovaleric acid in a patient with a deficiency of 3-methylcrotonyl-CoA carboxylase.

作者信息

Finnie M D, Cottrall K, Seakins J W, Snedden W

出版信息

Clin Chim Acta. 1976 Dec;73(3):513-9. doi: 10.1016/0009-8981(76)90155-8.

DOI:10.1016/0009-8981(76)90155-8
PMID:1000869
Abstract

A three-month old child, presenting with a history of feeding problems, suspected respiratory infection and failure to thrive, later developed fits and a profound irreversible metabolic acidosis. Chromatographic investigation of the urine revealed a gross excretion of 2-oxoglutaric and 3-hydroxyisovaleric acids. The identity of these two acids was confirmed by mass spectrometry. Enzyme studies on liver obtained at post-mortem demonstrated a deficiency of 3-methylcrotonyl-CoA:carbon dioxide ligase (ADP) (EC 6.4.1.4).

摘要

相似文献

1
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引用本文的文献

1
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Mol Genet Metab. 2016 May;118(1):15-20. doi: 10.1016/j.ymgme.2016.02.002. Epub 2016 Feb 15.
2
Purification and Characterization of 3-Methylcrotonyl-Coenzyme A Carboxylase from Higher Plant Mitochondria.高等植物线粒体中3-甲基巴豆酰辅酶A羧化酶的纯化与特性分析
Plant Physiol. 1993 Jul;102(3):957-965. doi: 10.1104/pp.102.3.957.
3
Inherited disorders of 3-methylcrotonyl CoA carboxylation.
3-甲基巴豆酰辅酶A羧化酶遗传性疾病。
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4
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs.两名同胞中出现的孤立性生物素抵抗性3-甲基巴豆酰辅酶A羧化酶缺乏症。
Eur J Pediatr. 1982 Jul;138(4):351-4. doi: 10.1007/BF00442517.
5
A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria.一种伴有2-酮戊二酸尿症的家族性进行性神经退行性疾病。
Eur J Pediatr. 1982 Feb;138(1):32-7. doi: 10.1007/BF00442325.
6
Symptoms and signs in organic acidurias.有机酸尿症的症状和体征。
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7
The biotin-dependent carboxylase deficiencies.生物素依赖性羧化酶缺乏症
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8
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A case of biotin-responsive 3-methylcrotonylglycin- and 3-hydroxyisovaleric aciduria.一例生物素反应性3-甲基巴豆酰甘氨酸尿症和3-羟基异戊酸尿症。
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