因二氢生物蝶呤生物合成缺陷所致非典型苯丙酮尿症的四氢生物蝶呤治疗
Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis.
作者信息
Schaub J, Däumling S, Curtius H C, Niederwieser A, Bartholomé K, Viscontini M, Schircks B, Bieri J H
出版信息
Arch Dis Child. 1978 Aug;53(8):674-6. doi: 10.1136/adc.53.8.674.
Abstract
A patient with atypical phenylketonuria (defective BH2 synthesis), detected at age 6 months because of severe muscle hypotonia and serum phenylalanine of 20 mg/100 ml, had normal activities of phenylalanine-4-hydroxylase and DHPR in liver biopsy, but only 2% activity in the phenylalanine-4-hyroxylase in vivo test using deuterated phenylalanine. After IV administration of 2.5 mg/kg chemically pure tetrahydrobiopterin bishydrochloride (BH4 . 2HCl), serum phenylalanine decreased from 20.4 to 2.1 mg/100 ml within 3 hours. Administration of 25 mg BH4 . HCl and 100 mg ascorbic acid through a gastric tube decrease; serum phenylalanine from 13.7 to less than 1.6 mg/100 ml within 3 hours and it remained less than 2 mg/100 ml for 2 days.
摘要
一名患有非典型苯丙酮尿症（二氢生物蝶呤合成缺陷）的患者，6个月大时因严重肌张力减退和血清苯丙氨酸水平为20mg/100ml而被检测出。肝活检显示苯丙氨酸-4-羟化酶和二氢蝶呤还原酶活性正常，但在使用氘代苯丙氨酸的苯丙氨酸-4-羟化酶体内试验中活性仅为2%。静脉注射2.5mg/kg化学纯的四氢生物蝶呤二盐酸盐（BH4·2HCl）后，血清苯丙氨酸在3小时内从20.4mg/100ml降至2.1mg/100ml。通过胃管给予25mg BH4·HCl和100mg抗坏血酸后，血清苯丙氨酸在3小时内从13.7mg/100ml降至低于1.6mg/100ml，并在2天内保持低于2mg/100ml。
相似文献
1
Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis.因二氢生物蝶呤生物合成缺陷所致非典型苯丙酮尿症的四氢生物蝶呤治疗
Arch Dis Child. 1978 Aug;53(8):674-6. doi: 10.1136/adc.53.8.674.
2
Atypical phenylketonuria caused by 7, 8-dihydrobiopterin synthetase deficiency.由7,8-二氢生物蝶呤合成酶缺乏引起的非典型苯丙酮尿症。
Lancet. 1979 Jan 20;1(8108):131-3. doi: 10.1016/s0140-6736(79)90521-x.
3
Atypical phenylketonuria with defective biopterin metabolism. Monotherapy with tetrahydrobiopterin or sepiapterin, screening and study of biosynthesis in man.伴有生物蝶呤代谢缺陷的非典型苯丙酮尿症。四氢生物蝶呤或司来吉兰单药治疗、人体生物合成的筛查与研究。
Eur J Pediatr. 1982 Mar;138(2):110-2. doi: 10.1007/BF00441135.
4
Clinical role of pteridine therapy in tetrahydrobiopterin deficiency.蝶啶疗法在四氢生物蝶呤缺乏症中的临床作用。
J Inherit Metab Dis. 1985;8 Suppl 1:39-45. doi: 10.1007/BF01800658.
5
Malignant phenylketonuria due to defective synthesis of dihydrobiopterin.由于二氢生物蝶呤合成缺陷导致的恶性苯丙酮尿症。
Isr J Med Sci. 1985 Jun;21(6):520-5.
6
Differential diagnosis of tetrahydrobiopterin deficiency.四氢生物蝶呤缺乏症的鉴别诊断。
J Inherit Metab Dis. 1985;8 Suppl 1:34-8. doi: 10.1007/BF01800657.
7
8
Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria.由于生物蝶呤缺乏导致的高苯丙氨酸血症。苯丙酮尿症的一种变异形式。
N Engl J Med. 1978 Sep 28;299(13):673-9. doi: 10.1056/NEJM197809282991301.
9
10
Malignant hyperphenylalaninemia--clinical features, biochemical findings, and experience with administration of biopterins.恶性高苯丙氨酸血症——临床特征、生化检查结果及给予生物蝶呤的经验
Pediatr Res. 1979 Oct;13(10):1150-5. doi: 10.1203/00006450-197910000-00014.
引用本文的文献
1
Measurement of Tetrahydrobiopterin in Animal Tissue Samples by HPLC with Electrochemical Detection-Protocol Optimization and Pitfalls.采用高效液相色谱-电化学检测法测定动物组织样本中的四氢生物蝶呤——方法优化与陷阱
Antioxidants (Basel). 2022 Jun 16;11(6):1182. doi: 10.3390/antiox11061182.
2
A noncoding RNA modulator potentiates phenylalanine metabolism in mice.一种非编码 RNA 调节剂可增强小鼠苯丙氨酸代谢。
Science. 2021 Aug 6;373(6555):662-673. doi: 10.1126/science.aba4991.
3
Tetrahydrobioterin (BH4) Pathway: From Metabolism to Neuropsychiatry.四氢生物蝶呤（BH4）途径：从代谢到神经精神医学。
Curr Neuropharmacol. 2021;19(5):591-609. doi: 10.2174/1570159X18666200729103529.
4
Phenylketonuria: Current Treatments and Future Developments.苯丙酮尿症：现有治疗方法与未来发展。
Drugs. 2019 Apr;79(5):495-500. doi: 10.1007/s40265-019-01079-z.
5
Organic anion transporters, OAT1 and OAT3, are crucial biopterin transporters involved in bodily distribution of tetrahydrobiopterin and exclusion of its excess.有机阴离子转运体 1（OAT1）和 3（OAT3）是二氢生物蝶呤（BH4）在体内分布和清除过剩的关键生物蝶呤转运体。
Mol Cell Biochem. 2017 Nov;435(1-2):97-108. doi: 10.1007/s11010-017-3060-7. Epub 2017 May 22.
6
Tetrahydrobiopterin Supplementation: Elevation of Tissue Biopterin Levels Accompanied by a Relative Increase in Dihydrobiopterin in the Blood and the Role of Probenecid-Sensitive Uptake in Scavenging Dihydrobiopterin in the Liver and Kidney of Rats.补充四氢生物蝶呤：组织生物蝶呤水平升高，同时血液中二氢生物蝶呤相对增加，以及丙磺舒敏感摄取在大鼠肝脏和肾脏清除二氢生物蝶呤中的作用。
PLoS One. 2016 Oct 6;11(10):e0164305. doi: 10.1371/journal.pone.0164305. eCollection 2016.
7
Phenylketonuria: a review of current and future treatments.苯丙酮尿症：现有及未来治疗方法综述。
Transl Pediatr. 2015 Oct;4(4):304-17. doi: 10.3978/j.issn.2224-4336.2015.10.07.
8
Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study.中国大陆 256 例四氢生物蝶呤缺乏症患者的人口统计学、诊断和治疗：一项回顾性多中心研究的结果。
J Inherit Metab Dis. 2013 Sep;36(5):893-901. doi: 10.1007/s10545-012-9550-6. Epub 2012 Nov 9.
9
Disorders of biopterin metabolism.生物蝶呤代谢紊乱。
J Inherit Metab Dis. 2009 Jun;32(3):333-42. doi: 10.1007/s10545-009-1067-2. Epub 2009 Feb 9.
10
Hyperphenylalaninemia due to impaired dihydrobiopterin biosynthesis.由于二氢生物蝶呤生物合成受损导致的高苯丙氨酸血症。
Eur J Pediatr. 1981 Jul;136(3):275-80. doi: 10.1007/BF00442994.
本文引用的文献
1
The use of deuterated phenylalanine for the elucidation of the phenylalanine-tyrosine metabolism.使用氘代苯丙氨酸来阐明苯丙氨酸 - 酪氨酸代谢。
Clin Chim Acta. 1972 Mar;37:277-85. doi: 10.1016/0009-8981(72)90442-1.
2
In vivo enhancement of tyrosine hydroxylation in rat striatum by tetrahydrobiopterin.四氢生物蝶呤对大鼠纹状体酪氨酸羟化作用的体内增强效应。
Nature. 1974 May 31;249(456):476-8. doi: 10.1038/249476a0.
3
Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninemia.苯丙酮尿症和高苯丙氨酸血症患者苯丙氨酸羟化酶活性的测定。
Pediatr Res. 1975 Dec;9(12):899-903. doi: 10.1203/00006450-197512000-00006.
4
Phenylketonuria due to a deficiency of dihydropteridine reductase.由于二氢蝶啶还原酶缺乏所致的苯丙酮尿症。
N Engl J Med. 1975 Oct 16;293(16):785-90. doi: 10.1056/NEJM197510162931601.
5
In vivo studies of the phenylalanine-4-hydroxylase system in hyperphenylalaninemics and phenylketonurics.高苯丙氨酸血症患者和苯丙酮尿症患者苯丙氨酸-4-羟化酶系统的体内研究。
Helv Paediatr Acta. 1978 Feb;32(6):461-9.
6
7
Letter: Tetrahydrobiopterin treatment of variant form of phenylketonuria.信件：四氢生物蝶呤治疗苯丙酮尿症变异型。
Lancet. 1975 Nov 22;2(7943):1043. doi: 10.1016/s0140-6736(75)90335-9.
Zotero 插件