Phenylketonuria (PKU) is the most common autosomal recessive disease. Hyperphenylalaninemia is caused by deficiency or inactivity of the phenylalanine hydroxylase in liver. In this disorder phenylalanine in not metabolized to tyrosine. Increased levels of blood phenylalanine causes irreversible brain damage. As infants with PKU do not show any clinical signs in the postnatal period, first stage in treatment is an effective screening and diagnosis. Main treatment of PKU is diet therapy, which should be initiated before the third week of life and monitored by a team formed of a pediatrician, an experienced dietitian, a psychologist, a social worker and a nurse. Phenylalanine-restricted diet should provide enough protein–energy and other nutri...
Hyperphenylalaninaemia (HPA) is an inherited disorder that results in raised plasma phenylalanine le...
Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It...
Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It...
Phenylketonuria (PKU) is the most common autosomal recessive disease. Hyperphenylalaninemia is cause...
Hyperphenylalaninaemia (HPA) is an inherited disorder that results in raised plasma phenylalanine le...
Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH) deficiency) is an autosomal rece...
There is currently no known method to cure PKU completely. With a disorder and a special type of met...
Abstract Phenylketonuria (PKU) is caused by a deficient activity of enzyme phenylalanine (Phe) hydro...
Phenylketonuria (PKU; MIM 261600) is an autosomal recessive disorder of phenylalanine metabolism cau...
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism resul...
Patients with phenylketonuria (PKU) must follow a strict low-phenylalanine (Phe) diet in order to mi...
Patients with phenylketonuria (PKU) must follow a strict low-phenylalanine (Phe) diet in order to mi...
Phenylketonuria (PKU) is an autosomal recessive disease caused by deficient activity of phenylalanin...
Patients with phenylketonuria (PKU) must follow a strict low-phenylalanine (Phe) diet in order to mi...
Phenylketonuria (PKU) was the first inherited metabolic disease in which treatment was found to prev...
Hyperphenylalaninaemia (HPA) is an inherited disorder that results in raised plasma phenylalanine le...
Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It...
Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It...
Phenylketonuria (PKU) is the most common autosomal recessive disease. Hyperphenylalaninemia is cause...
Hyperphenylalaninaemia (HPA) is an inherited disorder that results in raised plasma phenylalanine le...
Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH) deficiency) is an autosomal rece...
There is currently no known method to cure PKU completely. With a disorder and a special type of met...
Abstract Phenylketonuria (PKU) is caused by a deficient activity of enzyme phenylalanine (Phe) hydro...
Phenylketonuria (PKU; MIM 261600) is an autosomal recessive disorder of phenylalanine metabolism cau...
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism resul...
Patients with phenylketonuria (PKU) must follow a strict low-phenylalanine (Phe) diet in order to mi...
Patients with phenylketonuria (PKU) must follow a strict low-phenylalanine (Phe) diet in order to mi...
Phenylketonuria (PKU) is an autosomal recessive disease caused by deficient activity of phenylalanin...
Patients with phenylketonuria (PKU) must follow a strict low-phenylalanine (Phe) diet in order to mi...
Phenylketonuria (PKU) was the first inherited metabolic disease in which treatment was found to prev...
Hyperphenylalaninaemia (HPA) is an inherited disorder that results in raised plasma phenylalanine le...
Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It...
Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It...