Phenylketonuria (PKU) is a rare autosomal recessive disease, characterized by
a deficiency of the enzyme phenylalanine hydroxylase, without cure, where its
only and most effective treatment is through a very restricted diet and free of
phenylalanine. In order to assess the quality of life of PKU patients, a specific
questionnaire (PKUQoL) was used. The study included 5 adolescents, 3 adults,
4 children and 10 parents who answered 40 to 65 questions. The answers
obtained were linearized, in order to obtain values that ranged from 0 to 100% of
impact, according to each type of question asked. The questionnaire answered
by the parents indicated that the diet followed by the children is not considered a
problem, they are attentive to the signs and symptoms that the disease can
manifest and that they feel guilty when their children do not follow the diet
correctly. Children experience most symptoms associated with the disease, feel
heightened anxiety about blood tests, and are not ashamed to use metabolic
formula. For adolescents, the results indicated that having phenyl is not
considered a social problem, that they feel guilty for not following the phenyl diet
and that they are tempted to eat forbidden foods. Adults reported feeling irritable
and lacking in concentration, high anxiety about Phe levels during pregnancy,
and guilt if they didn't consume the metabolic formula. Patients reported a
negative impact on quality of life due to PKU.
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