Phenylalanine metabolism disorders treatment

As described above, phenylalanine, homocysteine, and galactose metabolic disorders affect brain function, the latter being profoundly or partially avoided by early diagnosis and proper treatment. As the ancient Greek doctor Hippocrates said, Prevention is better than treatment . 

PKU is a genetic disorder characterised by deficient metabolism of phenylalanine, resulting in the accumulation of phenylalanine and the ketone, phenylpyruvate. Neonatal screening (recently improved by the introduction of tandem mass spectrometry) for PKU assists diagnosis and treatment, which reduces the risk of mental retardation associated with this disorder. 

NBS and the use of dried blood spot (DBS) began almost 50 years ago, when, in the early 1960s, Dr. Robert Guthrie developed a bacterial inhibition assay [1] for the measurement of phenylalanine (Phe). This biological assay utilized cultured bacteria that could only grow in the presence of Phe. This analysis was sufficiently sensitive to measure elevated concentrations of Phe from the DBS of newborns in the first 2-3 days of life. Although a somewhat imprecise assay, it was sufficiently accurate to reliably detect PKU, an inherited disorder of Phe metabolism. Untreated PKU results in profound mental retardation and possible institutionalization. Early and continued treatment by dietary intervention throughout life prevents mental retardation and substantially improves the health of affected individuals. 

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