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Screening blood spots for argininosuccinase deficiency by electrospray tandem mass spectrometry.
Southeast Asian J Trop Med Public Health ; 1999 ; 30 Suppl 2(): 170-3
Article in English | 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.
Subject(s)
Full text: Available Index: IMSEAR (South-East Asia) Main subject: Argininosuccinic Acid / Female / Humans / Male / Infant, Newborn / Neonatal Screening / Spectrometry, Mass, Electrospray Ionization / Amino Acid Metabolism, Inborn Errors Type of study: Diagnostic study / Screening study Language: English Journal: Southeast Asian J Trop Med Public Health Year: 1999 Type: Article

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Full text: Available Index: IMSEAR (South-East Asia) Main subject: Argininosuccinic Acid / Female / Humans / Male / Infant, Newborn / Neonatal Screening / Spectrometry, Mass, Electrospray Ionization / Amino Acid Metabolism, Inborn Errors Type of study: Diagnostic study / Screening study Language: English Journal: Southeast Asian J Trop Med Public Health Year: 1999 Type: Article