LMP299Y1 Lecture Notes - Lecture 20: Phenylalanine Hydroxylase, Newborn Screening, Phenylalanine
12 May 2015
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Lecture 20 newborn screening. Newborn infants are preferably done in the first or second day of life. Take sample of blood from heel and dot it on filter paper (dry blood spot) Fill out information of infant along with parents and physicians then sent to newborn screening program in ottawa. Phenylketonuria (pku) (all of us have been screened for pku) Distinct chemical entity that can be treated. Leads to severe mental retardation if left untreated. Phe is very high in the blood. Phe is the likely toxic chemical. Acute toxicity if greater than 1300 um (especially to the brain) Excess phe interferes with normal brain development. If remain high level for long period of time inhibits normal brain development. Results in mental retardation. Phe metabolism of phenylalanine hydroxylase. Hyperphenylalaninemia (high phenylalanine in the blood) By virtue phenylketonuria excess will be excreted in the urine. High phenylalanine in blood and urine.
