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.

亚硫酸盐中毒是引起的四种超微疾病的标志由于合成亚硫酸盐的遗传缺陷导致亚硫酸盐氧化酶活性受损钼辅因子或脱辅基亚硫酸盐氧化酶。延迟这些疾病的诊断很常见，是由其非特异性表现的急性新生儿脑病引起的，早期死亡率较高，其次是肌张力障碍性脑瘫的演变，也是缺乏容易获得和可靠的诊断试验。受累儿童的生存率和对症治疗质量存在显著差异。一个4种疾病中，A型钼辅因子缺乏症(MoCD-A)有最近适合用合成的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，以促进诊断和支持患者的管理。指南由亚硫酸盐中毒疾病的诊断和治疗专家。它反映了专家共识意见和系统性文献检索的证据。