Phenylketonuria (PKU) is an autosomal recessive metabolic disorder due to mutations in the phenylalanine hydroxylase (PAH) gene, which converts phenylalanine (PHE) to tyrosine. Although it is principally a childhood disorder, in rare cases, the first signs of PKU may develop in late adulthood resembling common neurological diseases. Conditions with a statistically higher prevalence rate (over ) in adults with PKU were depression, ischaemic heart disease, asthma, Chronic obstructive pulmonary disease, dizziness/ giddiness, diabetes mellitus, gastroenteritis/ colitis, stress and adjustment disorders and acquired limb deformities.
Many symptoms of high or unstable blood phenylalanine (Phe) levels can be improved, even if you’ve been away from the clinic or off management. You can improve your phenylketonuria (PKU) management by using every available option . PKU symptom checker. For people with phenylketonuria (PKU), the symptoms of high or unstable blood phenylalanine (Phe) levels can occur slowly over time and can be difficult to recognize. Difficult for me to focus, difficult to maintain a PKU-friendly Phe-restricted diet, forgetful, misplace things, need reminders, uncomfortable in groups, anxious when leaving the .