Phenylketonuria in Western Libya: Demographic Patterns, Diagnostic Delays, and Neurodevelopmental Outcomes
DOI:
https://doi.org/10.65405/.v10i37.514Keywords:
Phenylketonuria; autosomal recessive; western region of Libya.Abstract
Phenylketonuria (PKU) is a rare autosomal recessive metabolic disorder characterized by a
deficiency in phenylalanine hydroxylase (PAH), leading to high concentrations of
phenylalanine in the blood which can cause brain damage. This research focuses on
evaluating the demographic patterns of PKU in the western region of Libya and assessing the
effect of early intervention on neurodevelopmental outcomes. Data collection was done at El
Galaa Hospital and subsequently analyzed using SPSS. Early diagnosis and dietary
intervention to lower blood phenylalanine concentrations are crucial to help prevent the
cognitive and behavioural complications that are associated with this disorder.
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