ERM - Phenylketonuria (PKU) *at first neonate is okay until...

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Epidemiology Diagnosis Treatment Phenylketonuria (PKU) *at first neonate is okay until they have to start producing it themselves (before supplied by placenta) Phenylalanine hydroxylase (autosomal recessive) Phenylalanine → Tyrosine Location: 12q22-24.1 More common in certain populations Without treatment, accumulation of Phe leads to irreversible mental retardation - Blood test: Phe levels (plasma amino acid analyzer or blood spot sample by tandem mass spectrometry) - Every week for 6 months, q2wk until 1 yr, q1mo until 3, q3mo until 12, q6mo thereafter - Objective: Phe 100-320 µM - Ongoing, successive adjustment of diet (mg Phe/kg) as patient grows With treatment, normal development generally attained - Special diet: Restrict phenylalanine & supple. tyrosine - Phe is essential AA; Tyr conditionally essential (in PKU) - But you’ve got to give some Phe- it’s an essential AA! {Method: Blend (or apportion)} - Normal infant formula (or breast milk): whole protein & No Phe but
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This note was uploaded on 09/14/2011 for the course PHARM ERM taught by Professor Staff during the Spring '11 term at UCSD.

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ERM - Phenylketonuria (PKU) *at first neonate is okay until...

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