皮尔逊综合征：三羧酸和尿素循环代谢产物改变、肾上腺功能不全及角膜混浊。 - Suppr

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超能文献

Pearson syndrome: altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities.

作者信息

Ribes A, Riudor E, Valcárel R, Salvá A, Castelló F, Murillo S, Dominguez C, Rötig A, Jakobs C

机构信息

Institut de Bioquímica Clínica, Diputació de Barcelona, Spain.

出版信息

J Inherit Metab Dis. 1993;16(3):537-40. doi: 10.1007/BF00711675.

DOI:10.1007/BF00711675

PMID:7609446

Abstract

摘要

相似文献

Pearson syndrome: altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities.皮尔逊综合征：三羧酸和尿素循环代谢产物改变、肾上腺功能不全及角膜混浊。

J Inherit Metab Dis. 1993;16(3):537-40. doi: 10.1007/BF00711675.

[Hyperammonemia--congenital abnormality of the urea cycle].[高氨血症——尿素循环的先天性异常]

Saishin Igaku. 1972 Apr;27(4):730-42.

An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency.以原发性肾上腺功能不全为表现的先天性代谢缺陷概述。

Rev Endocr Metab Disord. 2018 Mar;19(1):53-67. doi: 10.1007/s11154-018-9447-2.

Diagnosis of urea cycle disorders.尿素循环障碍的诊断。

Ann Clin Biochem. 1977 May;14(3):136-8. doi: 10.1177/000456327701400128.

[Enzymatic disturbances in the urea cycle].[尿素循环中的酶紊乱]

Monatsschr Kinderheilkd (1902). 1969 Jan;117(1):29-31.

Biochemical investigations of hyperammonaemia.高氨血症的生化研究

Lancet. 1969 Jul 26;2(7613):170-4. doi: 10.1016/s0140-6736(69)91419-6.

Urinary excretion of Krebs cycle metabolites in a 13-year-old girl.一名13岁女孩尿液中三羧酸循环代谢产物的排泄情况。

J Inherit Metab Dis. 1999 Dec;22(8):945. doi: 10.1023/a:1005612112618.

Lethal neonatal deficiency of carbamyl phosphate synthetase.氨甲酰磷酸合成酶致死性新生儿缺乏症

N Engl J Med. 1974 Feb 21;290(8):430-3. doi: 10.1056/NEJM197402212900804.

[Mitochondrial metabolism disorders and their implications for the locomotor system and heart. I].

Arq Bras Cardiol. 1989 Apr;52(4):227-32.

Corneal and fundus changes in familial LCAT-deficiency.家族性卵磷脂胆固醇酰基转移酶缺乏症的角膜和眼底改变

Acta Ophthalmol (Copenh). 1974;52(2):201-10. doi: 10.1111/j.1755-3768.1974.tb00368.x.

引用本文的文献

Adrenal Dysfunction in Mitochondrial Diseases.线粒体疾病中的肾上腺功能障碍。

Int J Mol Sci. 2023 Jan 6;24(2):1126. doi: 10.3390/ijms24021126.

Recent topics: the diagnosis, molecular genesis, and treatment of mitochondrial diseases.近期话题：线粒体疾病的诊断、分子起源和治疗。

J Hum Genet. 2019 Feb;64(2):113-125. doi: 10.1038/s10038-018-0528-6. Epub 2018 Nov 21.

Broad Phenotypic Heterogeneity and Multisystem Involvement in Single mtDNA Deletion-associated Pearson Syndrome.与单个线粒体DNA缺失相关的皮尔逊综合征的广泛表型异质性和多系统受累

Med Arch. 2018 Jun;72(3):234-236. doi: 10.5455/medarh.2018.72.234-236.

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.在 MT-ATP6 突变的儿童中，生化特征模拟多种羧化酶缺乏症。

Mitochondrion. 2019 Jan;44:58-64. doi: 10.1016/j.mito.2018.01.001. Epub 2018 Jan 4.

Mitochondrial disease and endocrine dysfunction.线粒体疾病与内分泌功能紊乱。

Nat Rev Endocrinol. 2017 Feb;13(2):92-104. doi: 10.1038/nrendo.2016.151. Epub 2016 Oct 7.

Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).由于同质性m.8993T>G变异导致的 Leigh 样综合征，伴有低瓜氨酸血症及提示多种羧化酶缺乏症（MCD）的不寻常生化特征。

JIMD Rep. 2017;33:99-107. doi: 10.1007/8904_2016_559. Epub 2016 Jul 22.

Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review.伴有3-甲基戊二酸尿症的Pearson骨髓-胰腺综合征中线粒体呼吸链复合物的临床表现及酶活性：一例报告并文献复习

Eur J Pediatr. 2015 Dec;174(12):1593-602. doi: 10.1007/s00431-015-2576-7. Epub 2015 Jun 16.

Sideroblastic anaemia and primary adrenal insufficiency due to a mitochondrial respiratory chain disorder in the absence of mtDNA deletion.无线粒体DNA缺失的线粒体呼吸链疾病所致的铁粒幼细胞性贫血和原发性肾上腺皮质功能不全。

BMJ Case Rep. 2015 Feb 26;2015:bcr2014208514. doi: 10.1136/bcr-2014-208514.

m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening.新生儿筛查中与m.8993T>G相关的 Leigh 综合征合并低瓜氨酸血症

JIMD Rep. 2014;17:47-51. doi: 10.1007/8904_2014_332. Epub 2014 Sep 21.

Metabolism of citrulline in man.瓜氨酸在人体内的代谢。

Amino Acids. 1995 Dec;9(4):299-316. doi: 10.1007/BF00807268.

本文引用的文献

Citrate therapy in argininosuccinate lyase deficiency.精氨琥珀酸裂解酶缺乏症中的柠檬酸盐疗法。

J Pediatr. 1990 Jul;117(1 Pt 1):102-5. doi: 10.1016/s0022-3476(05)82456-4.

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

J Clin Invest. 1990 Nov;86(5):1601-8. doi: 10.1172/JCI114881.

Organic aciduria in Pearson syndrome.皮尔逊综合征中的有机酸尿症。

Eur J Pediatr. 1991 Jul;150(9):684. doi: 10.1007/BF02072635.

Significance of bound glutarate in the diagnosis of glutaric aciduria type I.

J Inherit Metab Dis. 1992;15(3):367-70. doi: 10.1007/BF02435978.

Mitochondrial DNA deletion in an 8-year-old boy with Pearson syndrome.

J Inherit Metab Dis. 1992;15(3):327-30. doi: 10.1007/BF02435968.

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