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The use of phenylpropionic acid as a loading test for medium-chain acyl-CoA dehydrogenase deficiency.

作者信息

Seakins J W, Rumsby G

机构信息

Department of Clinical Biochemistry, Hospital for Sick Children, London, UK.

出版信息

J Inherit Metab Dis. 1988;11 Suppl 2:221-4. doi: 10.1007/BF01804241.

DOI:10.1007/BF01804241
PMID:3141707
Abstract
摘要

相似文献

1
The use of phenylpropionic acid as a loading test for medium-chain acyl-CoA dehydrogenase deficiency.使用苯丙酸作为中链酰基辅酶A脱氢酶缺乏症的负荷试验。
J Inherit Metab Dis. 1988;11 Suppl 2:221-4. doi: 10.1007/BF01804241.
2
Simple high-performance liquid chromatographic method for the detection of phenylpropionylglycine in urine as a diagnostic tool in inherited medium-chain acyl-coenzyme A dehydrogenase deficiency.用于检测尿液中苯丙酰甘氨酸的简单高效液相色谱法，作为遗传性中链酰基辅酶A脱氢酶缺乏症的诊断工具。
J Chromatogr B Biomed Sci Appl. 1997 Jun 20;694(1):227-32. doi: 10.1016/s0378-4347(97)00145-x.
3
The phenylpropionic acid load test: experience with 72 children at-risk for beta-oxidation disorders.
Ir J Med Sci. 1992 Oct;161(10):586-8. doi: 10.1007/BF02942363.
4
Identification of phenylpropionylcarnitine, a new metabolite of phenylpropionic acid, in a patient with medium chain acyl-CoA dehydrogenase deficiency.在一名中链酰基辅酶A脱氢酶缺乏症患者中鉴定出苯丙酸的一种新代谢产物苯丙酰肉碱。
J Inherit Metab Dis. 1990;13(3):325-9. doi: 10.1007/BF01799386.
5
Medium-chain acyl-CoA dehydrogenase deficiency: a useful diagnosis five years after death.中链酰基辅酶A脱氢酶缺乏症：死后五年的有效诊断。
Clin Chem. 1990 Sep;36(9):1695-7.
6
A simple screening test for medium-chain acyl CoA dehydrogenase deficiency.
Lancet. 1986 Aug 23;2(8504):467. doi: 10.1016/s0140-6736(86)92180-x.
7
Comparison of urinary acylglycines and acylcarnitines as diagnostic markers of medium-chain acyl-CoA dehydrogenase deficiency.尿酰基甘氨酸和酰基肉碱作为中链酰基辅酶A脱氢酶缺乏症诊断标志物的比较。
J Inherit Metab Dis. 1989;12 Suppl 2:325-8. doi: 10.1007/BF03335412.
8
When do gut flora in the newborn produce 3-phenylpropionic acid? Implications for early diagnosis of medium-chain acyl-CoA dehydrogenase deficiency.新生儿肠道菌群何时产生3-苯丙酸？对中链酰基辅酶A脱氢酶缺乏症早期诊断的意义。
Clin Chem. 1992 Feb;38(2):278-81.
9
Experience with the 3-phenylpropionic acid loading test for diagnosis of medium-chain acyl-CoA dehydrogenase deficiency (MCADD).3-苯丙酸负荷试验用于诊断中链酰基辅酶A脱氢酶缺乏症（MCADD）的经验。
Padiatr Padol. 1993;28(1):9-12.
10
Diagnosis of medium chain acyl-CoA dehydrogenase (MCAD) deficiency in an asymptomatic neonate.
Ann Clin Biochem. 1990 May;27 ( Pt 3):267-9. doi: 10.1177/000456329002700314.

引用本文的文献

1
Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry.采用电喷雾电离串联质谱法筛查中链酰基辅酶A脱氢酶缺乏症。
Arch Dis Child. 1998 Aug;79(2):109-15. doi: 10.1136/adc.79.2.109.
2
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.中链酰基辅酶A脱氢酶（MCAD）缺乏症：通过血液中酰基肉碱分析进行诊断。
Am J Hum Genet. 1993 May;52(5):958-66.
3
Novel glycine conjugates in medium-chain acyl-CoA dehydrogenase deficiency.

本文引用的文献

1
A quantitative study of the oxidation of phenyl-fatty acids in the animal organism.动物机体中苯基脂肪酸氧化的定量研究。
Biochem J. 1928;22(1):188-97. doi: 10.1042/bj0220188.
2
General (medium-chain) acyl-CoA dehydrogenase deficiency (non-ketotic dicarboxylic aciduria): quantitative urinary excretion pattern of 23 biologically significant organic acids in three cases.一般型（中链）酰基辅酶A脱氢酶缺乏症（非酮症性二羧酸尿症）：三例患者23种具有生物学意义的有机酸的尿排泄定量模式
Clin Chim Acta. 1983 Aug 15;132(2):181-91. doi: 10.1016/0009-8981(83)90246-2.
3
Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-coA dehydrogenase deficiency.
J Inherit Metab Dis. 1993;16(2):392-8. doi: 10.1007/BF00710286.
4
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency--diagnosis, plasma carnitine fractions and management in a further patient.长链3-羟酰基辅酶A脱氢酶缺乏症——另一例患者的诊断、血浆肉碱组分及处理
Eur J Pediatr. 1993 May;152(5):433-6. doi: 10.1007/BF01955905.
5
Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency.中链酰基辅酶A脱氢酶缺乏症的新生儿症状。
Arch Dis Child. 1993 Sep;69(3 Spec No):292-4. doi: 10.1136/adc.69.3_spec_no.292.
6
Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.中链酰基辅酶A脱氢酶基因第11外显子中的致病突变。
Am J Hum Genet. 1994 Jun;54(6):975-88.
7
Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency.中链酰基辅酶A脱氢酶缺乏症的发病率和死亡率
Arch Dis Child. 1994 May;70(5):410-2. doi: 10.1136/adc.70.5.410.
8
Group tests for selective screening of inborn errors of metabolism.
Eur J Pediatr. 1994;153(7 Suppl 1):S27-32. doi: 10.1007/BF02138774.
9
Disorders of mitochondrial beta-oxidation: prenatal and early postnatal diagnosis and their relevance to Reye's syndrome and sudden infant death.线粒体β-氧化紊乱：产前及产后早期诊断及其与瑞氏综合征和婴儿猝死的相关性
J Inherit Metab Dis. 1989;12 Suppl 1:215-30. doi: 10.1007/BF01799297.
10
Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency.中链酰基辅酶A脱氢酶缺乏症新生儿期异常尿代谢物分析
J Inherit Metab Dis. 1990;13(5):707-15. doi: 10.1007/BF01799572.
中链酰基肉碱在中链酰基辅酶A脱氢酶缺乏症中的诊断和治疗意义
Pediatr Res. 1985 May;19(5):459-66. doi: 10.1203/00006450-198505000-00011.
4
Effect of temperature and sample preparation on performance of ion-moderated partition chromatography of organic acids in biological fluids.温度和样品制备对生物体液中有机酸离子调节分配色谱性能的影响。
Clin Chim Acta. 1987 Mar 16;163(2):171-83. doi: 10.1016/0009-8981(87)90020-9.
5
Excretion of dicarboxylic and omega-1 hydroxy fatty acids by low birth weight infants fed with medium-chain triglycerides.喂养中链甘油三酯的低出生体重婴儿对二羧酸和ω-1羟基脂肪酸的排泄情况。
Pediatr Res. 1986 Feb;20(2):122-5. doi: 10.1203/00006450-198602000-00005.
6
Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria.来自一名二羧酸尿症患者尿液中的亚油酰甘氨酸排泄情况。
Clin Chim Acta. 1976 Aug 2;70(3):417-25. doi: 10.1016/0009-8981(76)90355-7.