Currently viewing the tag: "phenylalanine"
Phenylketonuria (PKU) became a recognised clinical condition in 1934 when Norwegian physician Ivar Asbjørn Følling identified a link between mental retardation and elevated levels of phenylalanine (hyperphenylalaninemia). The elevated levels of phenylalanine (Phe) was a recognised consequence of a deficiency of the enzyme phenylalanine hydroxylase (PAH).
Inherited defects in the make up of enzymes, receptors, transporters and structural proteins can all contribute to the rise of metabolic disorders. These disorders can arise from single mistakes in a gene and if not dealt with quickly, can prove fatal. Because of this, many are tested for at birth or shortly after and such disorders are now commonly known as congenital metabolic diseases or inherited metabolic diseases.
