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丙酸血症和3-甲基巴豆酰甘氨酸尿症患者合并亚氨基甘氨酸尿症、胱氨酸尿症和二碱基氨基酸尿症

Combined iminoglycinuria and cystine- and dibasic aminoaciduria in patients with propionic acidaemia and 3-methylcrotonylglycinuria.

作者信息

Purkiss P, Chalmers R A, Borud O

出版信息

J Inherit Metab Dis. 1980;3(3):85-6. doi: 10.1007/BF02312533.

DOI:10.1007/BF02312533
PMID:6775144
Abstract

Urinary amino acids have been determined in six patients with propionic acidaemia, one of whom also showed 3-methylcrotonylglycinuria. Two patients, including the subject with 3-methylcrotonylglycinuria, showed a gross aminoaciduria with features of both cystinuria and iminoglycinuria. We suggest a defect in certain amino acid transport systems in some patients with these disorders.

摘要

已对6名丙酸血症患者的尿氨基酸进行了测定,其中1名患者还表现出3-甲基巴豆酰甘氨酸尿症。包括患有3-甲基巴豆酰甘氨酸尿症的患者在内的2名患者表现出严重的氨基酸尿症,同时具有胱氨酸尿症和亚氨基甘氨酸尿症的特征。我们认为,这些疾病的某些患者存在特定氨基酸转运系统缺陷。

相似文献

1
Combined iminoglycinuria and cystine- and dibasic aminoaciduria in patients with propionic acidaemia and 3-methylcrotonylglycinuria.丙酸血症和3-甲基巴豆酰甘氨酸尿症患者合并亚氨基甘氨酸尿症、胱氨酸尿症和二碱基氨基酸尿症
J Inherit Metab Dis. 1980;3(3):85-6. doi: 10.1007/BF02312533.
2
Pseudo-cystinuria-lysinuria in neonatal propionic acidemia.
Clin Chem. 1988 Oct;34(10):2158.
3
Comparative GC/MS studies on the urinary acidic metabolites in beta-methylcrotonylglycinuria propionic acidaemia and methylmalonic acidaemia.β-甲基巴豆酰甘氨酸尿症、丙酸血症和甲基丙二酸血症患者尿液酸性代谢产物的气相色谱/质谱对比研究。
Z Klin Chem Klin Biochem. 1974 May;12(5):260.
4
Studies on the urinary acidic metabolites excreted by patients with beta-methylcrotonylglycinuria, propionic acidaemia and methylmalonic acidaemia, using gas-liquid chromatography and mass spectrometry.利用气液色谱法和质谱法对β-甲基巴豆酰甘氨酸尿症、丙酸血症和甲基丙二酸血症患者尿液中的酸性代谢产物进行的研究。
Clin Chim Acta. 1974 Mar;52(1):43-51. doi: 10.1016/0009-8981(74)90386-6.
5
Child with a defect in leucine metabolism associated with beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria.患有与β-羟基异戊酸尿症和β-甲基巴豆酰甘氨酸尿症相关的亮氨酸代谢缺陷的儿童。
Arch Dis Child. 1973 Dec;48(12):975-7. doi: 10.1136/adc.48.12.975.
6
A method for the determination of volatile organic acids in aqueous solutions and urine, and the results obtained in propionic acidaemia, beta-methylcrotonylglycinuria and methylmalonic aciduria.一种测定水溶液和尿液中挥发性有机酸的方法,以及在丙酸血症、β-甲基巴豆酰甘氨酸尿症和甲基丙二酸尿症中获得的结果。
Clin Chim Acta. 1974 Mar;52(1):31-41. doi: 10.1016/0009-8981(74)90385-4.
7
Evidence for the enzymic defect in beta-methylcrotonylglycinuria.β-甲基巴豆酰甘氨酸尿症酶缺陷的证据。
FEBS Lett. 1973 May 15;32(1):13-4. doi: 10.1016/0014-5793(73)80723-9.
8
Methylmalonic aciduria and propionic acidaemia studied by proton nuclear magnetic resonance spectroscopy.通过质子核磁共振波谱法研究甲基丙二酸尿症和丙酸血症。
Clin Chim Acta. 1986 Dec 15;161(2):173-89. doi: 10.1016/0009-8981(86)90211-1.
9
Late onset type of propionic acidaemia: case report and biochemical studies.
J Inherit Metab Dis. 1981;4(2):71-2. doi: 10.1007/BF02263596.
10
[An enteral modular formula in dibasic amino aciduria].[用于二元氨基酸尿症的肠内组件配方奶粉]
Nutr Hosp. 1993 Sep-Oct;8(7):441-6.

引用本文的文献

1
Neonatal pyruvate carboxylase deficiency with renal tubular acidosis and cystinuria.新生儿丙酮酸羧化酶缺乏伴肾小管酸中毒和胱氨酸尿症。
J Inherit Metab Dis. 1983;6(3):89-94. doi: 10.1007/BF01800731.

本文引用的文献

1
The excretion of amino acids by cystinuric patients and their relatives.胱氨酸尿症患者及其亲属的氨基酸排泄情况。
Ann Hum Genet. 1969 Oct;33(2):149-69. doi: 10.1111/j.1469-1809.1969.tb01641.x.
2
Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia".“酮症性高甘氨酸血症”中的遗传性丙酰辅酶A羧化酶缺乏症。
J Clin Invest. 1971 Jan;50(1):127-30. doi: 10.1172/JCI106466.
3
Rapid screening methods for the detection of inherited and acquired aminoacidopathies.用于检测遗传性和获得性氨基酸病的快速筛查方法。
Adv Clin Chem. 1971;14:145-218. doi: 10.1016/s0065-2423(08)60146-8.
4
The variability of metabolite excretion in propionicacidaemia.丙酸血症中代谢物排泄的变异性。
Clin Chim Acta. 1978 Jan 2;82(1-2):93-9. doi: 10.1016/0009-8981(78)90030-x.
5
Age related reference values for urinary free amino acids: a simple method of evaluation.尿游离氨基酸的年龄相关参考值:一种简单的评估方法。
J Clin Chem Clin Biochem. 1979 Apr;17(4):205-10. doi: 10.1515/cclm.1979.17.4.205.
6
Combined carboxylase defect: biotin-responsiveness in cultured fibroblasts.联合羧化酶缺陷:培养成纤维细胞中的生物素反应性。
Lancet. 1976 Oct 9;2(7989):804. doi: 10.1016/s0140-6736(76)90640-1.