FRIGEs Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad. India.
Indian Pediatr. 2012 Dec;49(12):975-7. doi: 10.1007/s13312-012-0247-6. Epub 2012 Jun 10.
Overlapping clinical phenotypes are a diagnostic challenge to the clinician, especially in the cases of mucolipidosis (ML) and mucopolysaccharide disorders (MPS), due to overlapping phenotypes. Present study was carried out in 147 children suspected to have ML or MPS and 100 controls. They were screened for ML II/III by colorimetric method using substrate pNCS. Six children were found screen positive for ML II/III and further confirmatory study showed significantly raised activity in plasma confirming high specificity of the ML screening test. Forty-two (28.5%) children out of remaining 141 children that were screen negative, were found to have various MPS disorders, while rest 99 had normal enzyme activity in plasma and leucocytes. Present study demonstrates prompt and specific chemical method that can be used as a tool for estimating ML II/III, with high specificity.
重叠的临床表型对临床医生来说是一个诊断挑战，特别是在黏脂贮积症 (ML) 和黏多糖贮积症 (MPS) 的情况下，因为它们的表型重叠。本研究在 147 名疑似 ML 或 MPS 的儿童和 100 名对照中进行。他们使用底物 pNCS 通过比色法筛选 ML II/III。发现 6 名儿童 ML II/III 筛查阳性，进一步的确认研究显示血浆中活性显著升高，证实了 ML 筛查试验的高特异性。在剩余的 141 名筛查阴性的儿童中，有 42 名（28.5%）被发现患有各种 MPS 疾病，而其余 99 名儿童的血浆和白细胞中的酶活性正常。本研究表明，这种快速而特异的化学方法可作为估计 ML II/III 的工具，具有很高的特异性。
