鸟氨酸血症、高氨血症和同型瓜氨酸尿症。一种与智力迟钝相关的疾病，可能由线粒体转运缺陷引起。 - Suppr

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Ornithinemia, hyperammonemia, and homocitrullinuria. A disease associated with mental retardation and possibly caused by defective mitochondrial transport.

作者信息

Fell V, Pollitt R J, Sampson G A, Wright T

出版信息

Am J Dis Child. 1974 May;127(5):752-6. doi: 10.1001/archpedi.1974.02110240138023.

DOI:10.1001/archpedi.1974.02110240138023

PMID:4825593

Abstract

摘要

相似文献

Ornithinemia, hyperammonemia, and homocitrullinuria. A disease associated with mental retardation and possibly caused by defective mitochondrial transport.鸟氨酸血症、高氨血症和同型瓜氨酸尿症。一种与智力迟钝相关的疾病，可能由线粒体转运缺陷引起。

Am J Dis Child. 1974 May;127(5):752-6. doi: 10.1001/archpedi.1974.02110240138023.

Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation.高鸟氨酸血症、高氨血症和同型瓜氨酸尿症。一种与肌阵挛性癫痫和智力发育迟缓相关的新的氨基酸代谢紊乱疾病。

Am J Dis Child. 1969 Jan;117(1):83-92.

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement.高鸟氨酸血症-高氨血症-同型瓜氨酸尿综合征：肌酐排泄量低及瓜氨酸、精氨酸或鸟氨酸补充剂的作用。

Pediatr Res. 1987 Sep;22(3):364-7. doi: 10.1203/00006450-198709000-00025.

Ornithine loading did not prevent induced hyperammonemia in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.鸟氨酸负荷未能预防高鸟氨酸血症-高氨血症-同型瓜氨酸尿综合征患者的诱发性高氨血症。

Pediatr Res. 1985 Dec;19(12):1283-7. doi: 10.1203/00006450-198512000-00016.

Hyperornithinemia, hyperammonemia, and homocitrullinuria associated with decreased carbamyl phosphate synthetase I activity.高鸟氨酸血症、高氨血症和同型瓜氨酸尿症与氨甲酰磷酸合成酶I活性降低相关。

Pediatr Res. 1975 May;9(5):488-97. doi: 10.1203/00006450-197505000-00006.

The implications of hyperammonemia in rare and common disorders, including migraine.高氨血症在包括偏头痛在内的罕见和常见疾病中的影响。

Mt Sinai J Med. 1973 Sep-Oct;40(5):609-30.

[Hyperornithinemia, hyperammonemia and homocitrullinuria syndrome in a family].[一个家族中的高鸟氨酸血症、高氨血症和同型瓜氨酸尿症综合征]

Rinsho Shinkeigaku. 1987 Apr;27(4):465-71.

Studies on the pathway from ornithine to proline in cultured skin fibroblasts with reference to the defect in hyperornithinaemia with hyperammonaemia and homocitrullinuria.关于高鸟氨酸血症伴高氨血症和同型瓜氨酸尿症中的缺陷，对培养的皮肤成纤维细胞中从鸟氨酸到脯氨酸的途径进行的研究。

J Inherit Metab Dis. 1983;6(4):143-8. doi: 10.1007/BF02310868.

The hyperornithinemia, hyperammonemia, homocitrullinuria syndrome: an ornithine transport defect remediable with ornithine supplements.高鸟氨酸血症、高氨血症、同型瓜氨酸尿症综合征：一种可通过补充鸟氨酸纠正的鸟氨酸转运缺陷。

Clin Invest Med. 1987 Jul;10(4):329-36.

[The dibasic amino acid metabolic disorders].[二元氨基酸代谢紊乱]

Nihon Rinsho. 1992 Jul;50(7):1555-60.

引用本文的文献

The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.高鸟氨酸血症-高氨血症-同型瓜氨酸尿症综合征

Orphanet J Rare Dis. 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9.

Single amino acid supplementation in aminoacidopathies: a systematic review.氨基酸代谢病中的单一氨基酸补充：一项系统综述。

Orphanet J Rare Dis. 2014 Jan 13;9:7. doi: 10.1186/1750-1172-9-7.

Gyrate atrophy of the choroid and retina with hyperornithinemia. Deficient formation of guanidinoacetic acid from arginine.伴有高鸟氨酸血症的脉络膜和视网膜回旋性萎缩。精氨酸生成胍基乙酸的过程存在缺陷。

J Clin Invest. 1980 Oct;66(4):684-7. doi: 10.1172/JCI109905.

Decreased transport of ornithine across the inner mitochondrial membrane as a cause of hyperornithinaemia.鸟氨酸跨线粒体内膜转运减少作为高鸟氨酸血症的一个病因。

J Inherit Metab Dis. 1982;5(1):41-7. doi: 10.1007/BF01799753.

Ultrastructural changes in fibroblast mitochondria of a patient with HHH-syndrome.HHH综合征患者成纤维细胞线粒体的超微结构变化

J Inherit Metab Dis. 1984;7(4):147-50. doi: 10.1007/BF01805595.

The pH of mitochondria of fibroblasts from a hyperornithinaemia, hyperammonaemia, homocitrullinuria-syndrome patient.

J Inherit Metab Dis. 1984;7(1):9-11. doi: 10.1007/BF01805611.

J Inherit Metab Dis. 1983;6(4):143-8. doi: 10.1007/BF02310868.

Liver pathology in transient neonatal hyperammonemia.短暂性新生儿高氨血症的肝脏病理学

Virchows Arch A Pathol Anat Histopathol. 1983;402(1):25-33. doi: 10.1007/BF00695046.

The biochemical basis of mitochondrial diseases.线粒体疾病的生化基础。

J Bioenerg Biomembr. 1988 Apr;20(2):161-91. doi: 10.1007/BF00768393.

Abnormality of citrulline synthesis in liver mitochondria from patients with hyperornithinaemia, hyperammonaemia and homocitrullinuria.

J Inherit Metab Dis. 1987;10(3):277-80. doi: 10.1007/BF01800081.

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