生物素反应性多种羧化酶缺乏症患者中全羧化酶合成酶的异质性
Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.
作者信息
Burri B J, Sweetman L, Nyhan W L
出版信息
Am J Hum Genet. 1985 Mar;37(2):326-37.
Abstract
Holocarboxylase synthetase activity has been determined in fibroblasts of seven patients with the neonatal form of biotin-responsive multiple carboxylase deficiency. The normal Km for biotin was 15 +/- 3 nmol/l, while in the patients the values ranged from 48 to 1,062 nmol/l. The mean maximum velocity was 27% of normal. Differences among the values obtained for the Km for biotin and the heat stability of holocarboxylase synthetase suggested that the patients studied represented at least four distinct variants at the holocarboxylase synthetase locus.
摘要
已测定了7例患有新生儿型生物素反应性多种羧化酶缺乏症患者成纤维细胞中的全羧化酶合成酶活性。生物素的正常米氏常数（Km）为15±3nmol/L，而患者的值在48至1062nmol/L之间。平均最大反应速度为正常的27%。生物素Km值和全羧化酶合成酶热稳定性所获得的值之间的差异表明，所研究的患者在全羧化酶合成酶基因座上至少代表四种不同的变异型。
相似文献
1
Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.生物素反应性多种羧化酶缺乏症患者中全羧化酶合成酶的异质性
Am J Hum Genet. 1985 Mar;37(2):326-37.
2
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.早发型和晚发型全羧化酶合成酶缺乏所致生物素反应性多种羧化酶缺乏症中的乳酸酸中毒
J Pediatr. 1982 Oct;101(4):546-50. doi: 10.1016/s0022-3476(82)80697-5.
3
Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.突变型全羧化酶合成酶：早期婴儿型生物素反应性多种羧化酶缺乏症中酶缺陷的证据。
J Clin Invest. 1981 Dec;68(6):1491-5. doi: 10.1172/jci110402.
4
Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro.五例全羧化酶合成存在生物素反应性缺陷的患者：体内生物素治疗反应性评估及体外比较生化研究
Pediatr Res. 1997 May;41(5):666-73. doi: 10.1203/00006450-199705000-00011.
5
6
Enzyme studies in combined carboxylase deficiency.联合羧化酶缺乏症的酶学研究
Ann N Y Acad Sci. 1985;447:235-51.
7
Deficient acetyl CoA carboxylase activity in multiple carboxylase deficiency.多种羧化酶缺乏症中乙酰辅酶A羧化酶活性不足
Clin Chim Acta. 1981 Apr 9;111(2-3):147-51. doi: 10.1016/0009-8981(81)90181-9.
8
Enzyme studies in biotin-responsive disorders.生物素反应性疾病中的酶学研究。
J Inherit Metab Dis. 1985;8 Suppl 1:46-52. doi: 10.1007/BF01800659.
9
引用本文的文献
1
Holocarboxylase Synthetase Deficiency: Clinical, Biochemical and Molecular Findings in Five Malaysian Patients Including a Newborn Presenting as Collodion Baby.全羧化酶合成酶缺乏症：五名马来西亚患者的临床、生化及分子学发现，包括一名表现为胶样婴儿的新生儿。
JIMD Rep. 2025 Mar 6;66(2):e70006. doi: 10.1002/jmd2.70006. eCollection 2025 Mar.
2
Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency.全羧化酶合成酶缺乏症患者成功妊娠并分娩，且无代谢异常。
Mol Genet Metab Rep. 2022 Oct 10;33:100923. doi: 10.1016/j.ymgmr.2022.100923. eCollection 2022 Dec.
3
A chemical biology approach reveals a dependency of glioblastoma on biotin distribution.一种化学生物学方法揭示了胶质母细胞瘤对生物素分布的依赖性。
Sci Adv. 2021 Sep 3;7(36):eabf6033. doi: 10.1126/sciadv.abf6033.
4
Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency.21号染色体臂内倒位导致全羧化酶合成酶缺乏症家族中HLCS基因破坏
JIMD Rep. 2017;34:55-61. doi: 10.1007/8904_2016_9. Epub 2016 Aug 13.
5
Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review.全羧化酶合成酶缺乏症的产前和产后放射学诊断：一项系统评价
Pediatr Radiol. 2016 Mar;46(3):357-64. doi: 10.1007/s00247-015-3492-8. Epub 2016 Jan 11.
6
Distinct amino termini of two human HCS isoforms influence biotin acceptor substrate recognition.两种人类HCS同工型不同的氨基末端影响生物素受体底物识别。
J Biol Chem. 2009 Nov 6;284(45):30862-70. doi: 10.1074/jbc.M109.046201. Epub 2009 Sep 9.
7
Biotin and biotinidase deficiency.生物素和生物素酶缺乏症。
Expert Rev Endocrinol Metab. 2008 Nov 1;3(6):715-724. doi: 10.1586/17446651.3.6.715.
8
Management of a patient with holocarboxylase synthetase deficiency.全羧化酶合成酶缺乏症患者的管理
Mol Genet Metab. 2008 Dec;95(4):201-5. doi: 10.1016/j.ymgme.2008.09.006. Epub 2008 Oct 29.
9
Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency.生物素酶活性受损会破坏晚发型多种羧化酶缺乏症中全羧化酶合成酶的表达。
J Biol Chem. 2008 Dec 5;283(49):34150-8. doi: 10.1074/jbc.M806985200. Epub 2008 Oct 9.
10
Holocarboxylase synthetase is an obligate participant in biotin-mediated regulation of its own expression and of biotin-dependent carboxylases mRNA levels in human cells.全羧化酶合成酶是生物素介导的对其自身表达以及人细胞中生物素依赖性羧化酶mRNA水平进行调控的必要参与者。
Proc Natl Acad Sci U S A. 2002 Apr 16;99(8):5325-30. doi: 10.1073/pnas.082097699.
本文引用的文献
1
Statistical estimations in enzyme kinetics.酶动力学中的统计估计
Biochem J. 1961 Aug;80(2):324-32. doi: 10.1042/bj0800324.
2
Biocytinase, an enzyme concerned with hydrolytic cleavage of biocytin.生物胞素酶，一种与生物胞素水解裂解有关的酶。
Proc Soc Exp Biol Med. 1954 Jun;86(2):335-7. doi: 10.3181/00379727-86-21090.
3
Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia.全羧化酶合成酶缺乏症：一种生物素反应性有机酸血症。
J Pediatr. 1980 May;96(5):845-9. doi: 10.1016/s0022-3476(80)80554-3.
4
Biotin-responsive multiple carboxylase deficiency of infantile onset.
J Pediatr. 1981 Sep;99(3):421-3. doi: 10.1016/s0022-3476(81)80334-4.
5
The neonatal form of biotin-responsive multiple carboxylase deficiency.
J Pediatr. 1981 Sep;99(3):418-20. doi: 10.1016/s0022-3476(81)80333-2.
6
Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis.以先天性乳酸性酸中毒为表现的生物素依赖性多种羧化酶缺乏症。
Eur J Pediatr. 1981 Oct;137(2):203-6. doi: 10.1007/BF00441318.
7
8
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.生物素酶缺乏症：迟发性多种羧化酶缺乏症中的酶缺陷。
Clin Chim Acta. 1983 Jul 15;131(3):273-81. doi: 10.1016/0009-8981(83)90096-7.
9
Deficient biotinidase activity in late-onset multiple carboxylase deficiency.迟发性多种羧化酶缺乏症中的生物素酶活性不足
N Engl J Med. 1983 Jan 20;308(3):161. doi: 10.1056/NEJM198301203080321.
10
Organic aciduria in neonatal multiple carboxylase deficiency.新生儿多种羧化酶缺乏症中的有机酸尿症
J Inherit Metab Dis. 1982;5(1):49-53. doi: 10.1007/BF01799754.
Zotero 插件