Torres-Sepúlveda María del Rosario, Martínez-de Villarreal Laura E, Esmer Carmen, González-Alanís Rogerio, Ruiz-Herrera Consuelo, Sánchez-Peña Alejandra, Mendoza-Cruz José Alberto, Villarreal-Pérez Jesús Z
Departamento de Genética, Facultad de Medicina, Universidad Autónoma de Nuevo León, México.
Salud Publica Mex. 2008 May-Jun;50(3):200-6. doi: 10.1590/s0036-36342008000300003.
To initiate a statewide expanded metabolic screening program in neonates with the purpose of identifying the most common inborn errors of metabolism.
From March 2002 through February 2004, a blood sample was obtained between 24 and 48 hours after delivery from every consecutive child born in public hospitals in Nuevo León. It was spotted on filter paper and analyzed by tandem mass spectrometry for expanded metabolic screening.
A total of 42 264 samples were analyzed. Were obtained seven positive results, one for each disorder: homocystinuria, hyperphenylalaninemia, citrulinemia, transient tyrosinemia, 3-methylcrotonyl CoA carboxylase deficiency, 3-hydroxy-3-methylglutaryl CoA deficiency, and classic galactosemia.
The estimated incidence of inborn errors of metabolism is 1:5 000, with a false positive rate of 0.22%. The program permitted the identification of metabolic disorders in the newborn, allowing an early intervention and prevention of life-threatening events and permanent neurological damage.
在全州范围内启动一项针对新生儿的扩大代谢筛查项目，以识别最常见的先天性代谢缺陷。
2002年3月至2004年2月期间，从新莱昂州公立医院每一例连续出生的婴儿出生后24至48小时采集血样。将血样点在滤纸上，采用串联质谱法进行扩大代谢筛查分析。
共分析了42264份样本。获得了7个阳性结果，每种疾病各1例：同型胱氨酸尿症、高苯丙氨酸血症、瓜氨酸血症、暂时性酪氨酸血症、3-甲基巴豆酰辅酶A羧化酶缺乏症、3-羟基-3-甲基戊二酰辅酶A缺乏症和经典型半乳糖血症。
先天性代谢缺陷的估计发病率为1:5000，假阳性率为0.22%。该项目能够识别新生儿的代谢紊乱，从而实现早期干预，预防危及生命的事件和永久性神经损伤。
