[Expand newborn screening using tandem mass spectrometry: two years' experience in Nuevo León, Mexico]. / Tamiz metabólico neonatal por espectrometría de masas en tándem: dos años de experiencia en Nuevo León, México.
Salud Publica Mex
; 50(3): 200-6, 2008.
Article
en Es
| MEDLINE
| ID: mdl-18516367
ABSTRACT
OBJECTIVE:
To initiate a statewide expanded metabolic screening program in neonates with the purpose of identifying the most common inborn errors of metabolism. MATERIAL ANDMETHODS:
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.RESULTS:
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.CONCLUSIONS:
The estimated incidence of inborn errors of metabolism is 15 000, 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.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Tamizaje Neonatal
/
Espectrometría de Masas en Tándem
/
Errores Innatos del Metabolismo
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Límite:
Humans
/
Newborn
País/Región como asunto:
Mexico
Idioma:
Es
Revista:
Salud Publica Mex
Año:
2008
Tipo del documento:
Article