Marrero-González N, Portuondo-Sao M, Lardoeyt-Ferrer R, Tassé-Vila D, Lantigua-Cruz A
Laboratorio de Cribado Neonatal, Centro de Inmunoensayo, Instituto Superieur de Ciencias Médicas de La Habana, La Habana, Cuba.
Rev Neurol. 2003;36(10):913-6.
Congenital hypothyroidism (CH), phenylketonuria (PKU), galactosemia (GAL) and biotinidase deficiency (BD) are innate errors in metabolism that share varying degrees of mental retardation (MR) as a common characteristic. AIMS. The aim of our study was to screen individuals with MR of unknown origin for CH, PKU, GAL and BD.
Venous blood samples were collected on SS 903 specimen collection paper from 55 individuals with MR of unspecific origin born within the period 1977 1997. CH diagnosis was performed through determination of total thyroxine (T4) and thyroid stimulating hormone (TSH), using the UMELISA T4 and neonatal TSH reagent kits, respectively, and the detection of PKU, GAL and BD was conducted by determining phenylalanine (Phe), total galactose (Gal) and biotinidase enzyme activity (Biot) using UMTEST PKU, GAL and BIOTINIDASA.
The mean values obtained for the analytes that were evaluated were: 0.8 mUI of TSH/L of total blood (EEM: 0.2), 113.1 nmol of T4/L of serum (EEM: 5.4), 67.7 mol of Phe/L of total blood (EEM: 0.1), 0.1 mmol of Gal/L of total blood (EEM: 0.01), and Biot activity was normal in all cases.
This study enabled us to determine the T4, TSH, Phe and Gal levels in a sample from the Cuban population with MR of unknown causation. In addition, slightly higher levels of T4 were found in children who had hyperkinesis
先天性甲状腺功能减退症（CH）、苯丙酮尿症（PKU）、半乳糖血症（GAL）和生物素酶缺乏症（BD）是先天性代谢缺陷，都有不同程度的智力发育迟缓（MR）这一共同特征。目的：我们研究的目的是对不明原因智力发育迟缓的个体进行CH、PKU、GAL和BD筛查。
从1977年至1997年出生的55例不明原因智力发育迟缓个体中，采集静脉血样于SS 903标本采集纸上。分别使用UMELISA T4和新生儿TSH试剂盒，通过测定总甲状腺素（T4）和促甲状腺激素（TSH）进行CH诊断，使用UMTEST PKU、GAL和BIOTINIDASA通过测定苯丙氨酸（Phe）、总半乳糖（Gal）和生物素酶活性（Biot）来检测PKU、GAL和BD。
所评估分析物的均值如下：全血中TSH为0.8 mUI/L（估计误差均值：0.2），血清中T4为113.1 nmol/L（估计误差均值：5.4），全血中Phe为67.7 μmol/L（估计误差均值：0.1），全血中Gal为0.1 mmol/L（估计误差均值：0.01），所有病例中Biot活性均正常。
本研究使我们能够测定古巴不明原因智力发育迟缓人群样本中的T4、TSH、Phe和Gal水平。此外，在患有多动症的儿童中发现T4水平略高。
