Phenylketonuria (PKU)
It is an
autosomal receding metabolic hereditary sickness considered by compound
heterozygous or homozygous mutations in the genetic factor for the hepatic
enzyme phenylalanine hydroxylase (PAH), version it nonfunctional.
Symptoms
Babies with
phenylketonuria originally don't have any indications. Deprived of cure,
though, babies typically grow signs of PKU inside a few months. Phenylketonuria
indications can be severe or mild.
Diagnosis
New born
blood analysis classifies almost all cases of PKU.
Treatment
The main
phenylketonuria action is a severe diet with very partial intake of
phenylalanine, which is typically found in foods covering protein. Medics used
to trust it was OK for a human being with PKU to stop the food in young age.
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