{"iri":"http://lmss.sali.org/RjkNX8mCEMI552iA5M6SQ7","id":"RjkNX8mCEMI552iA5M6SQ7","label":"Phenylketonuria (PKU)","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.","prefLabels":["Phenylalanine Hydroxylase Deficiency"],"altLabels":["PKU"],"examples":[],"notes":[],"sources":["https://www.ssa.gov/disability/professionals/bluebook/10.00-MultipleBody-Adult.htm"],"branch":{"iri":"http://lmss.sali.org/R7L5eLIzH0CpOUE74uJvSjL","label":"Legal Entity"},"parents":[{"iri":"http://lmss.sali.org/R8LxIR1bsgFd3td2G24G3mq","id":"R8LxIR1bsgFd3td2G24G3mq","label":"Congenital Disorders that Affect Multiple Body Systems"}],"children":[],"relations":[],"url":"https://lmss.io/tag/RjkNX8mCEMI552iA5M6SQ7/","source":{"repo":"sali-legal/LMSS","ref":"3f9ac0c9357b2a971582ae79ede243511d47811d","channel":"pre-release"}}