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Infantile isolated sulphite oxidase deficiency: report of a case with negative sulphite test and normal sulphate excretion.

作者信息

van der Klei-van Moorsel J M, Smit L M, Brockstedt M, Jakobs C, Dorche C, Duran M

机构信息

Department of Paediatrics, Free University Hospital, Amsterdam, The Netherlands.

出版信息

Eur J Pediatr. 1991 Jan;150(3):196-7. doi: 10.1007/BF01963565.

DOI:10.1007/BF01963565
PMID:2044591
Abstract

We present the clinical and biochemical data of a patient with infantile isolated sulphite oxidase deficiency with late onset of symptoms. A comparison of the biochemical parameters is made with the neonatal type of this disease and with the data of described patients with the combined defect of sulphite oxidase and xanthine oxidase, due to molybdenum cofactor deficiency. False-negative sulphite dip stick test as a pitfall in the diagnosis of sulphite oxidase deficiency is discussed.

摘要

相似文献

1
Infantile isolated sulphite oxidase deficiency: report of a case with negative sulphite test and normal sulphate excretion.
Eur J Pediatr. 1991 Jan;150(3):196-7. doi: 10.1007/BF01963565.
2
Combined xanthine and sulphite oxidase defect due to a deficiency of molybdenum cofactor.由于钼辅因子缺乏导致的联合黄嘌呤和亚硫酸盐氧化酶缺陷。
J Inherit Metab Dis. 1986;9(4):343-7. doi: 10.1007/BF01800483.
3
Anatomo-pathological findings in a case of combined deficiency of sulphite oxidase and xanthine oxidase with a defect of molybdenum cofactor.一例亚硫酸盐氧化酶和黄嘌呤氧化酶联合缺乏伴钼辅因子缺陷病例的解剖病理学发现
Virchows Arch A Pathol Anat Histopathol. 1985;405(3):379-86. doi: 10.1007/BF00710072.
4
Attempt at therapy in sulphite oxidase deficiency.亚硫酸盐氧化酶缺乏症的治疗尝试。
J Inherit Metab Dis. 1989;12(1):94-5. doi: 10.1007/BF01805537.
5
[Combined sulfite and xanthine oxidase deficiency due to an anomaly in the metabolism of molybdenum cofactor].[由于钼辅因子代谢异常导致的亚硫酸盐和黄嘌呤氧化酶联合缺乏症]
Ann Pediatr (Paris). 1986 Nov;33(9):825-8.
6
[Sulfite and xanthine oxidase deficiency: a diagnosis based on 2 simple tests].[亚硫酸盐和黄嘌呤氧化酶缺乏症：基于两项简单检测的诊断]
Ann Pediatr (Paris). 1986 Nov;33(9):857.
7
Combined deficiency of xanthine oxidase and sulphite oxidase: diagnosis of a new case followed by an antenatal diagnosis.
J Inherit Metab Dis. 1985;8 Suppl 2:117-8. doi: 10.1007/BF01811486.
8
Absence of hepatic molybdenum cofactor: an inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase.肝钼辅因子缺乏：一种导致亚硫酸盐氧化酶和黄嘌呤脱氢酶联合缺乏的先天性代谢缺陷。
J Inherit Metab Dis. 1983;6 Suppl 1:78-83. doi: 10.1007/BF01811328.
9
Combined deficiency of xanthine oxidase and sulphite oxidase: a defect of molybdenum metabolism or transport?
J Inherit Metab Dis. 1978;1(4):175-8. doi: 10.1007/BF01805591.
10
An HPLC assay for detection of elevated urinary S-sulphocysteine, a metabolic marker of sulphite oxidase deficiency.一种用于检测尿中S-磺基半胱氨酸升高的高效液相色谱法，S-磺基半胱氨酸是亚硫酸盐氧化酶缺乏的一种代谢标志物。
J Inherit Metab Dis. 1995;18(1):40-7. doi: 10.1007/BF00711371.

引用本文的文献

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Novel Compound Heterozygous Pathogenic Variants in Cause Isolated Sulfite Oxidase Deficiency in a Chinese Han Family.新型复合杂合致病性变异导致一个中国汉族家庭患孤立性亚硫酸盐氧化酶缺乏症。
Front Genet. 2021 May 7;12:607085. doi: 10.3389/fgene.2021.607085. eCollection 2021.
2
Stable clinical course in three siblings with late-onset isolated sulfite oxidase deficiency: a case series and literature review.三名迟发性孤立性亚硫酸盐氧化酶缺乏症患者的稳定临床病程：病例系列及文献综述
BMC Pediatr. 2019 Dec 23;19(1):510. doi: 10.1186/s12887-019-1889-5.
3
Isolated sulphite oxidase deficiency mimics the features of hypoxic ischaemic encephalopathy.

本文引用的文献

1
Combined deficiency of xanthine oxidase and sulphite oxidase: diagnosis of a new case followed by an antenatal diagnosis.
J Inherit Metab Dis. 1985;8 Suppl 2:117-8. doi: 10.1007/BF01811486.
2
Molybdenum cofactor deficiency in a patient previously characterized as deficient in sulfite oxidase.钼辅因子缺乏症，该患者之前被诊断为亚硫酸盐氧化酶缺乏。
Biochem Med Metab Biol. 1988 Aug;40(1):86-93. doi: 10.1016/0885-4505(88)90108-9.
3
Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency.钼辅因子缺乏导致亚硫酸盐氧化酶和黄嘌呤脱氢酶联合缺乏的新病例报告。
Eur J Pediatr. 2005 Nov;164(11):655-9. doi: 10.1007/s00431-005-1729-5. Epub 2005 Jul 16.
4
Isolated sulfite oxidase deficiency: MR imaging features.孤立性亚硫酸盐氧化酶缺乏症：磁共振成像特征
AJNR Am J Neuroradiol. 2002 Mar;23(3):484-5.
5
Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement.两名轻度亚硫酸盐氧化酶缺乏症患者的饮食疗法。临床和生物学改善的证据。
J Inherit Metab Dis. 2000 Feb;23(1):45-53. doi: 10.1023/a:1005646813492.
Eur J Pediatr. 1988 Dec;148(3):246-9. doi: 10.1007/BF00441412.
4
A new case of isolated sulphite oxidase deficiency with rapid fatal outcome.
J Inherit Metab Dis. 1988;11(4):425-6. doi: 10.1007/BF01800433.
5
Sulfite oxidase deficiency: clinical, neuroradiologic, and biochemical features in two new patients.
Neurology. 1989 Feb;39(2 Pt 1):252-7. doi: 10.1212/wnl.39.2.252.
6
Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism.
N Engl J Med. 1977 Nov 10;297(19):1022-8. doi: 10.1056/NEJM197711102971902.
7
Combined deficiency of xanthine oxidase and sulphite oxidase: a defect of molybdenum metabolism or transport?
J Inherit Metab Dis. 1978;1(4):175-8. doi: 10.1007/BF01805591.