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PKU: Genetic Causes and Management by Dr Kumar Ponnusamy is a document available to read on EtoBox.
What is PKU: Genetic Causes and Management about?
1) An infant is diagnosed with phenylketonuria (PKU), a genetic defect causing a loss of function in the enzyme PAH. This results in toxic buildup of phenylketone derivatives from phenylalanine (PA). 2) PKU can be managed by regulating PA intake through diet. Tyrosine must be supplemented in the diet since it is produced from PA and the metabolic pathway is blocked. 3) Phenylalanine is normally broken down through a pathway producing tyrosine, involved in melanin pigment production. Defects in enzymes in
- Author
- Dr Kumar Ponnusamy
- Language
- EN