丙二酰辅酶A脱羟酶缺乏症1例临床及基因诊断分析

彭镜; 邬玲仟; 周明星; 钟乐; 尹飞

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中国当代儿科杂志 ›› 2012, Vol. 14 ›› Issue (11) : 879-880.

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丙二酰辅酶A脱羟酶缺乏症1例临床及基因诊断分析

彭镜，邬玲仟，周明星，钟乐，尹飞

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A case of malonyl-CoA decarboxylase deficiency: clinical and genetic study

PENG Jing, WU Ling-Qian, ZHOU Ming-Xing, ZHONG Le, YIN Fei

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彭镜，邬玲仟，周明星，钟乐，尹飞. 丙二酰辅酶A脱羟酶缺乏症1例临床及基因诊断分析[J]. 中国当代儿科杂志. 2012, 14(11): 879-880

PENG Jing, WU Ling-Qian, ZHOU Ming-Xing, ZHONG Le, YIN Fei. A case of malonyl-CoA decarboxylase deficiency: clinical and genetic study[J]. Chinese Journal of Contemporary Pediatrics. 2012, 14(11): 879-880

中图分类号： R596.1

参考文献

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［3］Reszko AE, Kasumov T, Comte B, Pierce BA, David F, Bederman IR, et al. Assay of the concentration and 13C-isotopic enrichment of malonyl-coenzyme A by gas chromatography-mass spectrometry［J］. Anal Biochem, 2001, 298(1): 69-75.

［4］Saggerson D. Malonyl-CoA, a key signaling molecule in mammalian cells［J］. Annu Rev Nutr, 2008, 28: 253-272.

［5］Salomons GS, Jakobs C, Pope LL, Errami A, Potter M, Nowaczyk M, et al. Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency［J］. J Inherit Metab Dis, 2007, 30(1): 23-28.

［6］Krishnamoorthy KS,Vianey-Sabin C, Shih VE. Malonic acid uria due to mitochondrial malonyl coenzyme A decarboxylase deficiency:a rare inborn error of metabolism［J］. J Inherit Metab Dis, 1999, 22(Suppl 1): 93.

［7］de Wit MC, de Coo IF, Verbeek E, Schot R, Schoonderwoerd GC, Duran M, et al. Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency［J］. Mol Genet Metab, 2006, 87(2): 102-106.