WARNING:
JavaScript is turned OFF. None of the links on this concept map will
work until it is reactivated.
If you need help turning JavaScript On, click here.
This Concept Map, created with IHMC CmapTools, has information related to: Phenylketonuria (PKU), Phenyloketonuria caused by Phenylalanine hydroxylase (PAH) deficiency, Phenylalanine hydroxylase (PAH) deficiency caused by bi-allelic mutation in encoding gene, Dependence on diet for tyrosine requiring increased tyrosine in diet, Defect in BH4 recycling (rare) results in Hyperphenylalaninemia, Paitents reaching reproductive age bear children with Maternal PKU syndrome, Mild increase in phenylalanine concentration causes Benign hyperphenylalaninemia, Impaired brain development causing Severe mental retardation if untreated, Maternal PKU syndrome in cases of Poor adherence to dietary therapy, Decreased ability to convert phenylalanine to tyrosine leads to Mild increase in phenylalanine concentration, Phenylalanine hydroxylase (PAH) deficiency results in Inability to convert phenylalanine to tyrosine, Phenyloketonuria caused by Defect in BH4 recycling (rare), Inability to convert phenylalanine to tyrosine leads to Abnormally low tyrosine concnetration, Inability to convert phenylalanine to tyrosine leads to Abnormally high phenylalanine concentration, Phenylalanine metabolites excreted in urine, Phenylalanine metabolites excreted in sweat, bi-allelic mutation in encoding gene resulting in autosomal recessive inheritance, Phenylalanine metabolites causes Impaired brain development, urine causing Excess phenyl ketones in urine, Phenylalanine hydroxylase (PAH) deficiency results in Decreased ability to convert phenylalanine to tyrosine, Abnormally high phenylalanine concentration causes Impaired brain development