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.
摘要：
亚硫酸盐中毒是四种异常疾病的标志，这些疾病是由于钼辅因子或亚硫酸盐氧化酶合成中的遗传缺陷导致亚硫酸盐氧化酶活性受损而引起的。这些疾病的诊断延迟是常见的，并且是由于它们没有特异性地表现为急性新生儿脑病，早期死亡率很高，其次是肌张力障碍性脑瘫的演变，以及缺乏容易获得和可靠的诊断测试。受影响儿童的生存率和对症管理质量存在显着差异。四种疾病之一，最近，A型钼辅因子缺乏症（MoCD-A）已适合使用合成cPMP（fosdenopterin）进行因果治疗。合理使用cPMP的证据基础非常有限。这促使制定这些临床指南以促进诊断并支持患者的管理。该指南是由亚硫酸盐中毒疾病的诊断和治疗专家制定的。它反映了来自系统文献检索的专家共识意见和证据。
