Screening blood spots for argininosuccinase deficiency by electrospray tandem mass spectrometry.
Southeast Asian J Trop Med Public Health
;
1999 ; 30 Suppl 2(): 170-3
Artículo
en Inglés
| IMSEAR
| ID: sea-33340
ABSTRACT
Argininosuccinase deficiency is relatively more common in Saudi Arabia than other urea cycle detects (UCD) and its presentation is usually acute and virtually identical to the clinical presentation of other UCD. We developed a rapid, sensitive, and specific screening method for the diagnosis of argininosuccinase deficiency from blood spots. using electrospray tandem mass spectrometry. A 96-well microplate batch process is used for extraction of argininosuccinic acid (ASA), other amino acids and acylcarnitines (Rashed et al. 1995). ASA and other metabolites are derivatized to the corresponding butyl derivatives. The tris-butyl ester of ASA (MH = 459.3) yields two major fragments at m/z 70 and m/z 144 under mild collision induced collision. montitored in the product ion spectrum using a narrow mass range (65-150 kDa). A processing algorithm "CAMPA" is used to automatically calculate the height ratios of selected masses and flags data files as "abnormal" when certain threshold is exceeded. The method is integrated with our existing 2-minute MS/MS method for profiling amino acids and acylcarnitines (Rashed et al. 1997). Using this approach for two years we diagnosed 16 ALD cases from 14 hyperammonemic infants, one high-risk newborn, and one from a regular newborn screening blood spot.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Ácido Argininosuccínico
/
Femenino
/
Humanos
/
Masculino
/
Recién Nacido
/
Tamizaje Neonatal
/
Espectrometría de Masa por Ionización de Electrospray
/
Errores Innatos del Metabolismo de los Aminoácidos
Tipo de estudio:
Estudio diagnóstico
/
Estudio de tamizaje
Idioma:
Inglés
Revista:
Southeast Asian J Trop Med Public Health
Año:
1999
Tipo del documento:
Artículo
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