线粒体极长链酰基辅酶A脱氢酶缺乏症——一种脂肪酸氧化的新疾病。
Mitochondrial very long chain acyl-CoA dehydrogenase deficiency--a new disorder of fatty acid oxidation.
作者信息
Largillière C, Vianey-Saban C, Fontaine M, Bertrand C, Kacet N, Farriaux J P
机构信息
Hopital Huriez, Lille, France, Department of Paediatrics, France.
出版信息
Arch Dis Child Fetal Neonatal Ed. 1995 Sep;73(2):F103-5. doi: 10.1136/fn.73.2.f103.
Abstract
Very long chain acyl-CoA dehydrogenase is a newly characterised enzyme in mitochondrial fatty acid oxidation. A girl who presented on the second day of life with a sudden and severe illness due to deficiency of this enzyme is reported. There is evidence that some children (and perhaps all) originally diagnosed with a deficiency of long-chain acyl-CoA dehydrogenase, in fact, have a defect involving very long chain acyl-CoA dehydrogenase.
摘要
极长链酰基辅酶A脱氢酶是线粒体脂肪酸氧化中一种新发现的酶。本文报道了一名因该酶缺乏在出生第二天就突然罹患重病的女孩。有证据表明，一些最初被诊断为长链酰基辅酶A脱氢酶缺乏的儿童（或许所有此类儿童），实际上存在涉及极长链酰基辅酶A脱氢酶的缺陷。
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本文引用的文献
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Biochem Biophys Res Commun. 1993 Mar 31;191(3):1369-72. doi: 10.1006/bbrc.1993.1368.
2
Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency.在三名先前被诊断为长链酰基辅酶A脱氢酶缺乏症的患者中鉴定出极长链酰基辅酶A脱氢酶缺乏症。
Pediatr Res. 1993 Jul;34(1):111-3. doi: 10.1203/00006450-199307000-00025.
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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
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Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. I. Purification and properties of very-long-chain acyl-coenzyme A dehydrogenase.
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