Molecular genetic study on maple syrup urine disease in Philippines

许多病例枫糖浆尿病（MSUD）已确定在菲律宾。为提高MSUD的早期诊断，对马尼拉大都会地区新生儿MSUD筛查的适用性进行了研究。在这一年中，通过在病情严重的新生儿中发现异常气味，发现了6例新的MSUD患者。这些患者在营养治疗下得到了良好的治疗和发展。在我们之前的研究中，一个独特的E2基因突变被确定并发现为菲律宾人的创始突变。因此，我们在这6例新病例中分析了这种突变。外显子9 ~ 10区域的PCR应用未发现缩短产物。这表明这6例患者没有缺失突变。E2基因的每一个外显子现在都在进行序列检查。我们的研究结果表明，一种突变在菲律宾人中并不常见，但存在几种类型的突变。

Many cases of maple syrup urine disease (MSUD) have been identified in the Philippines. To enhance early diagnosis of MSUD, applicability of neonatal screening of MSUD was examined in Metro Manila.Within this year 6 new MSUD patients were identified by finding abnormal smell in the very sick neonates. These patients were treated well and are developing well under the nutritional treatment.In our previous study one unique mutation of the E2 gene is identified and found as a founder mutation among Philippino. Therefore, this mutation was analyzed in these 6 new cases. PCR application of the region spreading from exon 9 to 10 showed no shortened product. This indicates that these 6 patients had no deletion mutations. Then every exon of the E2 gene is now under sequence examination.Our results indicate that one mutation is not common among Philippines but several types of mutation be presert.