Development of a novel approach for the second-tier estimation of homocysteine in dried blood spot using tandem mass spectrometry (original) (raw)

Abstract

sample volume [5]. Furthermore, the incorporation of TMS in NBS has revolutionized many aspects of the process beyond the most obvious of allowing for testing of many analytes on the same sample at the same time [6,7]. Homocystinuria is an inherited metabolic disorder resulting from a defect in the methionine (Met) metabolism usually characterized by an aberrant buildup of total homocysteine (tHCY) and its cognates such as HCY, HCY-cysteine complex, and others in blood and urine of the affected neonate. Clinical presentation for homocystinuria is often accompanied by symptoms such as mental retardation, thromboembolism, psychiatric disorders, ectopia lentis, and skeletal abnormalities [8-10]. However, the re-methylation disorder is often characterized by diverse clinical presentations such as developmental delay, seizure, hypotonia, microcephaly, feeding difficulty, neurological deterioration,

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