الفهرس 
Pathogenesis and Pathophysiology(Pathology)Only 14 pages are availabe for public view
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Abstract
Phenylketonuria (PKU), the most common inborn error of amino acid metabolism, it results when there is a deficiency or absence of the enzyme phenylalanine hydroxylase (PAH) activity. Amino acid disorders are inherited in an autosomal recessive manner and affect both males and females. Phenylalanine hydroxylase deficiency results in intolerance to the dietary intake of the essential amino acid phenylalanine. Phenylketonuria also subsumes as (Hyperphenylalaninemia) because it is resulting in the accumulation of phenylalanine and its metabolites in the blood. Which if untreated, phenylalanine can build up to harmful levels in the body, causing brain and nerve damage, intellectual disability and other serious health problems and usually first noted by sings of mental retardation in infancy. Newborn screening is a vital step helping in preventing potentially devastating and irreversible outcomes for infants and families. Newborn screening allows early identification and early implementation of treatment. It is more economical to detect and treat a disease such as PKU early rather than provide lifelong support for an untreated child who will develop severe mental retardation. Nurses are often the first line of defense and safety when it comes to educating parents and managing the entire newborn screening process to ensure healthy outcomes for families. Nurses play an incredibly important role in the first few days of a baby’s life. The aim of this study was to assess nurses’ knowledge regarding phenylketonuria disorder and PKU test in maternal and child health care centers at Tanta city.