Phenylketonuria: "Test of Pezinho" - for what?
Keywords:
Little foot test, Phenylketonuria, Aminoacidopathy, Central Nervous System, Neurological Injury – Prevention, mental retardationAbstract
Phenylketonuria (PKU) is an aminoacidopathy resulting from mutations in Phenylalanine - Hydroxyphase, an enzyme that converts Phenylalanine into Tyrosine. Deficient degradation of Phenylalanine causes it to accumulate in body fluids, damaging the Central Nervous System early in development and leading to abnormal functioning of the mature brain. Neurological damage can be prevented by early diagnosis and changes in the patient's diet. This study aimed to characterize the practice of the Pezinho Test for the detection of Phenylketonuria and to sensitize pregnant women to the importance of performing the test in a timely manner to prevent mental retardation. The work was carried out at the Basic Health Unit of Jardim Leonor, West Zone of Londrina-Pr, through PEEPIN/95 – Special Project for Teaching Interdisciplinary and Multiprofessional Practices at the Universidade Estadual de Londrina.Downloads
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