Phenylketonuria diagnosis in adults

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July 8, 2019
phenylketonuria diagnosis in adults

Phenylketonuria is a recessively inherited metabolic disorder which, unless it is treated early enough with a phenylalanine-restricted diet, leads to severe intellectual disabilities. 1 the overall prevalence of phenylketonuria in the uk is about 1 per 10 000 2 and published guidelines suggest that treatment needs to be early and lifelong.

Many symptoms of high or unstable blood phenylalanine (phe) levels can be improved, even if youve been away from the clinic or off management. You can improve your phenylketonuria (pku) management by using every available option for getting your blood phe levels low and stable.

В  nearly all cases of pku are diagnosed through a blood test done on newborns. States and territories require that newborns get screened for pku. In addition to the united states, many other countries routinely screen infants for pku.