芳香族L-氨基酸脱羧酶缺乏症患者高多巴胺尿症的病理生化意义。 - Suppr

Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency.

作者信息

Abeling N G, Bräutigam C, Hoffmann G F, Barth P G, Wevers R A, Jaeken J, Fiumara A, Knust A, van Gennip A H

机构信息

Academic Medical Center, University of Amsterdam, Department of Clinical Chemistry and Division Emma Children's Hospital, The Netherlands.

出版信息

J Inherit Metab Dis. 2000 Jun;23(4):325-8. doi: 10.1023/a:1005650325003.

DOI:10.1023/a:1005650325003

PMID:10896285

Abstract

摘要

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Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency.芳香族L-氨基酸脱羧酶缺乏症患者高多巴胺尿症的病理生化意义。

J Inherit Metab Dis. 2000 Jun;23(4):325-8. doi: 10.1023/a:1005650325003.

Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies.芳香族L-氨基酸脱羧酶缺乏症伴高多巴胺尿症。不同治疗方法的临床和实验室结果。

Neuropediatrics. 2002 Aug;33(4):203-8. doi: 10.1055/s-2002-34497.

The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: biochemical findings in two patients.

J Inherit Metab Dis. 2000 Jun;23(4):321-4. doi: 10.1023/a:1005698223186.

Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology.

Clin Chem. 1992 Dec;38(12):2405-10.

Clinical Metabolomics to Segregate Aromatic Amino Acid Decarboxylase Deficiency From Drug-Induced Metabolite Elevations.临床代谢组学将芳香族氨基酸脱羧酶缺乏症与药物引起的代谢物升高区分开来。

Pediatr Neurol. 2017 Oct;75:66-72. doi: 10.1016/j.pediatrneurol.2017.06.014. Epub 2017 Jun 29.

Assessment of renal dopaminergic system activity during cyclosporine A administration in the rat.环孢素A给药期间大鼠肾脏多巴胺能系统活性的评估。

Br J Pharmacol. 1995 Aug;115(8):1349-58. doi: 10.1111/j.1476-5381.1995.tb16623.x.

Role of aromatic L-amino acid decarboxylase for dopamine replacement by genetically modified fibroblasts in a rat model of Parkinson's disease.芳香族L-氨基酸脱羧酶在帕金森病大鼠模型中对转基因成纤维细胞替代多巴胺的作用。

J Neurochem. 1997 Nov;69(5):2055-63. doi: 10.1046/j.1471-4159.1997.69052055.x.

Concerted action of dopamine on renal and intestinal Na(+)-K(+)-ATPase in the rat remnant kidney.多巴胺对大鼠残余肾中肾和肠道钠钾ATP酶的协同作用。

Am J Physiol Renal Physiol. 2000 Dec;279(6):F1033-44. doi: 10.1152/ajprenal.2000.279.6.F1033.

L-dopa-resistant Parkinsonism due to dopa decarboxylase deficiency?多巴脱羧酶缺乏导致的左旋多巴抵抗性帕金森症？

Ann Neurol. 1981 Jul;10(1):64-5. doi: 10.1002/ana.410100117.

Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis.芳香族L-氨基酸脱羧酶缺乏症：不寻常的新生儿表现及有机酸分析的其他发现。

Mol Genet Metab. 2006 Jan;87(1):48-53. doi: 10.1016/j.ymgme.2005.09.007. Epub 2005 Nov 9.

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Carrier frequency and incidence of aromatic L-amino acid decarboxylase deficiency: a gnomAD-based study.载频和芳香族 L-氨基酸脱羧酶缺乏症的发生率：基于 gnomAD 的研究。

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A new common functional coding variant at the DDC gene change renal enzyme activity and modify renal dopamine function.一个新的 DDC 基因常见功能编码变异改变了肾脏酶的活性，并调节了肾脏多巴胺功能。

Sci Rep. 2019 Mar 25;9(1):5055. doi: 10.1038/s41598-019-41504-7.

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.芳香族L-氨基酸脱羧酶（AADC）缺乏症诊断与治疗的共识指南。

Orphanet J Rare Dis. 2017 Jan 18;12(1):12. doi: 10.1186/s13023-016-0522-z.

A kidney-specific genome-scale metabolic network model for analyzing focal segmental glomerulosclerosis.用于分析局灶节段性肾小球硬化的肾脏特异性基因组规模代谢网络模型。

Mamm Genome. 2016 Apr;27(3-4):158-67. doi: 10.1007/s00335-016-9622-2. Epub 2016 Feb 29.

The paradox of hyperdopaminuria in aromatic L-amino Acid deficiency explained.芳香族L-氨基酸缺乏症中高多巴胺尿症的悖论解析。

JIMD Rep. 2012;4:39-45. doi: 10.1007/8904_2011_84. Epub 2011 Nov 2.

The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: biochemical findings in two patients.

J Inherit Metab Dis. 2000 Jun;23(4):321-4. doi: 10.1023/a:1005698223186.

本文引用的文献

Aromatic L-amino acid decarboxylase deficiency: an extrapyramidal movement disorder with oculogyric crises.芳香族L-氨基酸脱羧酶缺乏症：一种伴有动眼危象的锥体外系运动障碍。

Eur J Paediatr Neurol. 1997;1(2-3):67-71.

Aromatic L-amino acid decarboxylase deficiency: a new case with a mild clinical presentation and unexpected laboratory findings.芳香族L-氨基酸脱羧酶缺乏症：一例临床表现轻微且实验室检查结果意外的新病例。

J Inherit Metab Dis. 1998 Jun;21(3):240-2. doi: 10.1023/a:1005307919767.

The renal dopamine system.

Adv Pharmacol. 1998;42:870-3. doi: 10.1016/s1054-3589(08)60885-6.

Nonneuronal dopamine.

Adv Pharmacol. 1998;42:866-9. doi: 10.1016/s1054-3589(08)60884-4.

Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a second family.

J Child Neurol. 1997 Sep;12(6):349-54. doi: 10.1177/088307389701200602.

Alternate promoters in the rat aromatic L-amino acid decarboxylase gene for neuronal and nonneuronal expression: an in situ hybridization study.大鼠芳香族L-氨基酸脱羧酶基因中用于神经元和非神经元表达的交替启动子：原位杂交研究

J Neurochem. 1996 Jan;66(1):14-9. doi: 10.1046/j.1471-4159.1996.66010014.x.

Renal dopamine excretion in healthy volunteers after oral ingestion of L-dopa.

Fundam Clin Pharmacol. 1993;7(1):11-6. doi: 10.1111/j.1472-8206.1993.tb00213.x.

Aromatic amino acid decarboxylase deficiency in twins.

J Inherit Metab Dis. 1990;13(3):301-4. doi: 10.1007/BF01799380.

Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis.芳香族L-氨基酸脱羧酶缺乏症：一种新的神经递质胺合成先天性代谢缺陷病的临床特征、诊断及治疗

Neurology. 1992 Oct;42(10):1980-8. doi: 10.1212/wnl.42.10.1980.

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Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency.

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