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Publication details
Léčebná výživa při fenylketonurii
Title in English | Phenylketonuria diet |
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Authors | |
Year of publication | 2012 |
Type | Article in Periodical |
Magazine / Source | Výživa a potraviny |
MU Faculty or unit | |
Citation | |
web | http://www.vyzivaspol.cz/clanky-casopis/lecebna-vyziva-pri-fenylketonurii.html |
Field | Hygiene |
Keywords | Phenylketonuria; diet |
Description | Phenylketonuria is a rare metabolic disorder that usually results from a deficiency of a liver enzyme known as phenylalanine hydroxylase. This enzyme deficiency leads to elevated levels of the amino acid phenylalanine in the blood and other tissues. The untreated state is characterized by mental retardation, behavior abnormalities, and other symptoms. Importatnt is newborn screening program for PKU, when diagnosed early in the newborn period and treated to achieve good metabolic control infant, hav normal health and development. The current treatment for this disorder involves strict metabolic control using a low-PHE diet. Metabolic control of PKU can be difficult to achieve, and poor control can result in significant decline of mental and behavioral performance. Women with PKU must also maintain strict metabolic control before and during pregnancy to prevent fetal damage. |