Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies

IF 4.2 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM Journal of Inherited Metabolic Disease Pub Date : 2024-04-16 DOI:10.1002/jimd.12730
Bernd C. Schwahn, Francjan van Spronsen, Albert Misko, Julija Pavaine, Victoria Holmes, Ronen Spiegel, Guenter Schwarz, Flora Wong, Alistair Horman, James Pitt, Jörn Oliver Sass, Charlotte Lubout
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Abstract

Sulfite intoxication is the hallmark of four ultrarare disorders that are caused by impaired sulfite oxidase activity due to genetic defects in the synthesis of the molybdenum cofactor or of the apoenzyme sulfite oxidase. Delays on the diagnosis of these disorders are common and have been caused by their unspecific presentation of acute neonatal encephalopathy with high early mortality, followed by the evolution of dystonic cerebral palsy and also by the lack of easily available and reliable diagnostic tests. There is significant variation in survival and in the quality of symptomatic management of affected children. One of the four disorders, molybdenum cofactor deficiency type A (MoCD-A) has recently become amenable to causal treatment with synthetic cPMP (fosdenopterin). The evidence base for the rational use of cPMP is very limited. This prompted the formulation of these clinical guidelines to facilitate diagnosis and support the management of patients. The guidelines were developed by experts in diagnosis and treatment of sulfite intoxication disorders. It reflects expert consensus opinion and evidence from a systematic literature search.

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诊断和处理孤立亚硫酸盐氧化酶缺乏症和钼辅助因子缺乏症的共识指南
亚硫酸盐中毒是四种极罕见疾病的特征,这些疾病是由于钼辅助因子或亚硫酸盐氧化酶酶合成过程中的遗传缺陷导致亚硫酸盐氧化酶活性受损而引起的。这些疾病的诊断延误很常见,其原因是新生儿急性脑病的表现不具特异性,早期死亡率很高,随后演变为肌张力障碍性脑瘫,而且缺乏简便可靠的诊断测试。患儿的存活率和对症治疗的质量差异很大。钼辅助因子缺乏症 A 型(MoCD-A)是这四种疾病中的一种,最近已可通过合成 cPMP(磷苯蝶啶)进行因果治疗。合理使用 cPMP 的证据基础非常有限。这促使我们制定了这些临床指南,以方便诊断和支持对患者的管理。该指南由亚硫酸盐中毒疾病诊断和治疗方面的专家制定。它反映了专家的共识意见和系统文献检索的证据。
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来源期刊
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease 医学-内分泌学与代谢
CiteScore
9.50
自引率
7.10%
发文量
117
审稿时长
4-8 weeks
期刊介绍: The Journal of Inherited Metabolic Disease (JIMD) is the official journal of the Society for the Study of Inborn Errors of Metabolism (SSIEM). By enhancing communication between workers in the field throughout the world, the JIMD aims to improve the management and understanding of inherited metabolic disorders. It publishes results of original research and new or important observations pertaining to any aspect of inherited metabolic disease in humans and higher animals. This includes clinical (medical, dental and veterinary), biochemical, genetic (including cytogenetic, molecular and population genetic), experimental (including cell biological), methodological, theoretical, epidemiological, ethical and counselling aspects. The JIMD also reviews important new developments or controversial issues relating to metabolic disorders and publishes reviews and short reports arising from the Society''s annual symposia. A distinction is made between peer-reviewed scientific material that is selected because of its significance for other professionals in the field and non-peer- reviewed material that aims to be important, controversial, interesting or entertaining (“Extras”).
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