{"iri":"https://folio.openlegalstandard.org/RjkNX8mCEMI552iA5M6SQ7","label":"Phenylketonuria (PKU)","sub_class_of":["https://folio.openlegalstandard.org/R8LxIR1bsgFd3td2G24G3mq"],"parent_class_of":[],"is_defined_by":null,"see_also":[],"comment":null,"deprecated":false,"preferred_label":"Phenylalanine Hydroxylase Deficiency","alternative_labels":["PKU"],"translations":{},"hidden_label":null,"definition":"Phenylketonuria (PKU) is a genetic disorder characterized by the inability to metabolize phenylalanine, an amino acid, due to a deficiency in the enzyme phenylalanine hydroxylase (PAH). This leads to an accumulation of phenylalanine in the blood and brain, which can result in severe neurological and developmental issues.","examples":[],"notes":[],"history_note":null,"editorial_note":null,"in_scheme":null,"identifier":null,"description":null,"source":null,"country":null}