In the 1980s, an amino-acid formulation for intravenous use was designed to reproduce the amino-acid profile of a breast-fed infant. 1 Such solutions are now widely used for nutrition in preterm ...

Phenylketonuria (PKU) is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a defect in the gene that helps create the enzyme needed to ...

Claire can only eat 15g of protein a day due to PKU, a rare condition that causes a 'toxic' build-up of phenylalanine in the body.

Classical PKU (MIM # 261600) is the most frequent inborn error of metabolism and follows an autosomal recessive pattern of inheritance. Untreated patients ...

The FDA approved sepiapterin (Sephience) for the treatment of children and adults with phenylketonuria (PKU), PTC Therapeutics announced. The approval includes broad labeling for the treatment of ...

Sidra Medicine has marked a significant medical achievement by securing regulated access to sepiapterin for patients with Phenylketonuria (PKU), positioning Qat ...

Novel enzyme therapy will treat adults with PKU who have uncontrolled blood phenylalanine concentrations with current treatment. The US Food and Drug Administration (FDA) has approved biotech BioMarin ...

Phenylketonuria or PKU is caused by lack of an enzyme called phenylalanine hydroxylase. The enzyme converts the amino acid phenylalanine into another amino acid called tyrosine. Being deficient in ...

The phenylketonuria (PKU) test is a diagnostic tool used to test infants for phenylketonuria a few days after birth. PKU is an autosomal recessive inborn error of ...

Babies get tested for many things right after they are born. The heel prick includes a test for phenylketonuria (PKU), a rare birth defect that causes a certain amino acid to build up in the body. Dr.