Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry.
Pediatrics
; 107(6): E103, 2001 Jun.
Article
em En
| MEDLINE
| ID: mdl-11389301
ABSTRACT
The introduction of tandem mass spectrometry to newborn screening has substantially expanded our ability to diagnose metabolic diseases in the newborn period. We report the first case of neonatal carnitine palmitoyltransferase deficiency II detected by expanded newborn screening with tandem mass spectrometry. The neonate presented with dysmorphic facial features, structural malformations, renal failure, seizures, and cardiac arrythmias and died on the third day of life. This experience illustrates the importance of expanded newborn screening to avoid missing a metabolic diagnosis in early infantile death.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Contexto em Saúde:
2_ODS3
/
6_ODS3_enfermedades_notrasmisibles
/
7_ODS3_muertes_prevenibles_nacidos_ninos
Problema de saúde:
2_muertes_prevenibles
/
6_congenital_chromosomal_anomalies
/
6_endocrine_disorders
/
7_neonatal_care_health
Assunto principal:
Anormalidades Múltiplas
/
Carnitina O-Palmitoiltransferase
/
Triagem Neonatal
Tipo de estudo:
Diagnostic_studies
/
Screening_studies
Limite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Pediatrics
Ano de publicação:
2001
Tipo de documento:
Article
País de afiliação:
Estados Unidos