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β-酮硫解酶缺乏症一例 被引量:3

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摘要 患儿,女,10.5个月,因“吐泻2d、呻吟6h”入院.入院前2d随父母在外进食晚餐后2h出现呕吐2次,为非喷射性,次日泻黄稀便3次,未见脓血等异常,6h前出现呻吟、气促、纳差,拟“秋冬季腹泻”收住院.病程中精神差,尿量少,无晕厥、抽搐等.既往有腹泻病史,自行痊愈.患儿系G1P1,足月剖宫产,出生体重3 350 g,产时无窒息及产伤史.母乳喂养,按时添加辅食,生长发育同正常同龄儿.父母体健,系姨表亲结婚,均为独生子女,否认家族性、遗传性及传染性疾病史,母孕期产检正常,否认病毒感染、放射线及有毒物质接触史.
出处 《中国小儿急救医学》 CAS 2014年第9期610-611,共2页 Chinese Pediatric Emergency Medicine
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参考文献10

  • 1Sarafoglou K,Matern D,Redlinger-Grosse K,et al.Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening[J].Pediatrics,2011,128 (1):e246-250.
  • 2Daum RS,Lamm P,Mamer OA,et al.A "new" disorder of isoleucine catabolism[J].Lancet,1971,2 (7737):1289-1290.
  • 3Mitchell GA,Fukao T.Inborn errors of ketone body metabolism.In:Scriver CR,Beaudet AL,Sly WS,et al.The metabolic and molecular bases of inherited disease[M].New York:McGraw-Hill,2001:2327-2356.
  • 4Fukao T,Nguyen NT,Vu DC,et al.A common mutation,R208X,identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency[J].Mol Genet Metab,2010,100(1):37-41.
  • 5Rezvani I,Rosenblatt DS.Valine,leucine,isoleocine and related organic acidemias.In:Behrman RE,Kliegman RM,Jenson HB (eds).Nelson Textbook of Pediatrics[M].17th ed,Philadelphia:Saunders,2004:409-433.
  • 6王欲琦,马琳.新生儿β-酮硫解酶缺乏症1例[J].中国实用儿科杂志,2008,23(5):355-355. 被引量:7
  • 7Arica V,Arica SG,Dag H,et al.Beta-ketothiolase deficiency brought with lethargy:case report[J].Hum Exp Toxico1,2011,30(10):1724-1727.
  • 8Akella RR,Aoyama Y,Mori C,et al.Metabolic encephalopathy in beta-ketothiolase deficiency:the first report from India[J].Brain Dev,2014,36 (6):537-540.
  • 9Kayani R,Botros S,Moore P.Beta-ketothiolase deficiency and pregnancy[J].Int J Obstet Anesth,2013,22 (3):260-261.
  • 10詹建英,梁黎,董关萍,王春林,赵正言.β酮硫解酶缺乏症一例[J].中华儿科杂志,2006,44(9):703-704. 被引量:10

二级参考文献5

  • 1韩连书,高晓岚,叶军,邱文娟,顾学范.串联质谱技术在有机酸血症筛查中的应用研究[J].中华儿科杂志,2005,43(5):325-330. 被引量:62
  • 2Hillman RE,Keating JP.Beta-ketothiolase deficiency as a cause of the "ketotic hyperglycinemia syndrome".Pediatrics,1974,53:221-225.
  • 3Schutgens RB,Middleton B,vd Blij JF,et al.Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts.Eur J Pediatr,1982,139:39-42.
  • 4Middleton B,Bartlett K,Romanos A,et al.3-Ketothiolase deficiency.Eur J Pediatr,1986,144:586-589.
  • 5Henry CG,Strauss AW,Keating JP,et al.Congestive cardiomyopathy associated withβ-Ketothiolase deficiency.J Pedia,1981,99:754-757.

共引文献10

同被引文献16

  • 1顾学范,韩连书,高晓岚,杨艳玲,叶军,邱文娟.串联质谱技术在遗传性代谢病高危儿童筛查中的初步应用[J].中华儿科杂志,2004,42(6):401-404. 被引量:142
  • 2岳爱红,刘凤珍,张慧玉,杨硕.β-酮硫解酶缺乏症1例[J].中国实用儿科杂志,2006,21(4):299-299. 被引量:5
  • 3詹建英,梁黎,董关萍,王春林,赵正言.β酮硫解酶缺乏症一例[J].中华儿科杂志,2006,44(9):703-704. 被引量:10
  • 4韩连书,叶军,邱文娟,高晓岚,王瑜,张拥军,顾学范.串联质谱技术在脂肪酸氧化代谢病诊断中的应用研究[J].中华医学遗传学杂志,2007,24(6):692-695. 被引量:11
  • 5Kano M,Fukao T,Yamaguchi S,et al. Structure and expression of the human mitochondrial acetoacetyl-CoA thiolase-encoding gene[J]. Gene,1991,109(2):285 290. DO1:10.1016/0378-1119 (91)90623-J.
  • 6Fukao T, Yamaguchi S, Kano M, et al. Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3- ketothiolase deficiency[J]. J Clin Invest, 1990, 86 (6): 2086- 2092. DOI:10.1172/JCI114946.
  • 7Saudubray JM, Berghe Gvd, Walter JH. Inborn metabolic diseases diagnosis and treatment[M]. 5th ed. Berlin: Springer, 2012: 221. DOI:10.1007/978-3-642-15720 2 1.
  • 8Sarafoglou K, Matern D, Redlinger-Grosse K, et al. Siblings wilh mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening[J]. Pediatrics, 2011,128(1):e246-250. DOI: 10. 1542/peds. 2010-3918.
  • 9Law CY, I.am CW, Ching CK, beta-ketothiolase deficiency[J]. et al. NMR based urinalysis for Clin Chim Aeta, 2015,438 : 222-225. DOI: 10. 1016/j. cca. 2014. 08. 041.
  • 10Fukao T,Nguyen HT,Nguyen NT,et al. A common mutation, R208X, identified in Vietnamese patients with mitochondria acetoacetyl-CoA thiolase (T2) deficiency[J]. Mo Genet Metab, 2010,100(1):37 41. DOO: 10.1016/j. ymgme. 2010. 01. 007.

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