Molecular genetic study on maple syrup urine disease in Philippines

在菲律宾已经发现了许多枫糖浆尿病(MSUD)病例。为提高MSUD的早期诊断水平，在大都会马尼拉对MSUD新生儿筛查的适用性进行了调查。年内，通过在重症新生儿身上发现异常气味，发现了6例新的MSUD患者。这些患者在营养治疗下得到了很好的治疗和发育。在我们之前的研究中，我们发现了一种独特的E2基因突变，并在菲律宾人中发现了一种创始人突变。因此，我们对这6例新病例进行了基因突变分析。外显子9~10的扩增产物未见缩短。这表明这6例患者没有缺失突变。然后对E2基因的每个外显子进行序列检查。我们的结果表明，一个突变在菲律宾并不常见，但几种类型的突变被保留。

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.