Phenylalanine
hydroxylase (PAH) deficiency, commonly known as phenylketonuria (PKU), is one
of the most common inborn errors of amino acid metabolism.
It is inherited
as an autosomal recessive trait. Prevalance of PKU is approximately 1:10000 in
Europe and 1:15000 in the USA but may vary widely in other regions of the
world.
Due to the high
rate of consanguineous marriages (20-25%) [2], diseases with autosomal
recessive inheritance are common in Turkey and estimated
incidence of persistent hyperphenylalaninemia is one in 4000-4500 live births.
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