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首页> 外文期刊>Journal of Inborn Errors of Metabolism & Screening >Beta-Ketothiolase Deficiency Resolving Challenges in Diagnosis
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Beta-Ketothiolase Deficiency Resolving Challenges in Diagnosis

机译：β-酮硫解酶缺乏症在诊断中的挑战

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Beta-ketothiolase deficiency is an inherited disorder of ketone body metabolism and isoleucine catabolism. It typically manifests as recurrent ketoacidotic episodes with characteristic abnormalities in the urinary organic acid profile. However, several challenges in the diagnosis of beta-ketothiolase deficiency have been encountered: atypical presentations have been reported and some other disorders, such as succinyl-CoA:3-oxoacid CoA transferase and 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiencies, can mimic the clinical and/or biochemical signs of beta-ketothiolase deficiency. A final diagnosis of beta-ketothiolase deficiency requires an enzymatic assay and/or a molecular analysis, but some caveats must be considered. Despite the reported missed cases, screening programs have successfully identified an increasing number of patients with beta-ketothiolase deficiency. Early diagnosis and management of beta-ketothiolase deficiency will enable prevention of its serious acute and chronic complications and ultimately improve the prognosis.
机译：β-酮硫解酶缺乏症是酮体代谢和异亮氨酸分解代谢的遗传性疾病。它通常表现为复发性酮症酸中毒发作，尿有机酸谱特征异常。但是，在β-酮硫醇酶缺乏症的诊断中遇到了一些挑战：已经报道了非典型症状，以及其他一些疾病，例如琥珀酰-CoA：3-含氧酸CoA转移酶和2-甲基-3-羟基丁酰-CoA脱氢酶缺乏症，可以模仿β-酮硫解酶缺乏症的临床和/或生化迹象。对β-酮硫醇酶缺乏症的最终诊断需要酶法测定和/或分子分析，但必须考虑一些注意事项。尽管报告了漏诊病例，但筛查程序已成功鉴定出越来越多的β-酮硫解酶缺乏症患者。对β-酮硫醇酶缺乏症的早期诊断和处理将能够预防其严重的急性和慢性并发症，并最终改善预后。

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