{"Name":"Mild phenylketonuria","DiseaseID__c":"GARD:0010324","id":10324,"encodedName":"mild-phenylketonuria","IsDeleted":false,"Disease_Name_Full__c":"Mild phenylketonuria","Xref_IDs__c":"C5680203; MEDGEN:1842357; MONDO:0019258","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0019258","Disease_Description__c":"A mild to moderate form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by blood phenylalanine concentrations of 600-1,200 micromol/L and manifests with reduced cognitive function and behavioral and developmental disorders. Dietary phenylalanine tolerance is 400-600 mg/day.","GARD_Name__c":"Mild phenylketonuria","GARD_Synonym__c":"mild pku; mpku; variant phenylketonuria; variant pku","Curated_Disease_Description_Source__c":"GARD:0010324","Curated_Disease_Description__c":"Mild phenylketonuria is a rare form of phenylketouria (PKU variant), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity. Patients with blood phenylalanine concentrations of 600-1,200 micromol/L are considered to have mild PKU. Clinical signs include reduced cognitive function and behavioral and developmental disorders. It is caused by certain genetic changes in the PAH gene which result in slightly higher activity of the phenylalanine hydroxylase compared with the classic phenylketonuria where there is a complete or near-complete deficiency of phenylalanine hydroxylase activity. Inheritance is autosomal recessive.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:79253","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019258","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":"ORPHA:79253","Spanish_Description__c":"Es una forma de leve a moderada de fenilcetouria (PKU), un error congénito del metabolismo de los aminoácidos, caracterizada por concentraciones de fenilalanina en sangre de 600 a 1.200 micromol/L, que se manifiesta con afectación de la función cognitiva y trastornos de la conducta y del desarrollo. La tolerancia dietética a la fenilalanina es de 400 a 600 mg/día.","Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Mild phenylketonuria is a rare form of phenylketouria (PKU variant), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity. Patients with blood phenylalanine concentrations of 600-1,200 micromol/L are considered to have mild PKU. Clinical signs include reduced cognitive function and behavioral and developmental disorders. It is caused by certain genetic changes in the PAH gene which result in slightly higher activity of the phenylalanine hydroxylase compared with the classic phenylketonuria where there is a complete or near-complete deficiency of phenylalanine hydroxylase activity. Inheritance is autosomal recessive.","Curated_Disease_Description_Source__c":"GARD:0010324","GARD_Synonym__c":"mild pku; mpku; variant phenylketonuria; variant pku","Name":"Mild phenylketonuria","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Canadian PKU & Allied Disorders","Website__c":"https://canpku.org/"},{"Account_Name__c":"Intermountain PKU and Allied Disorders Association","Website__c":"https://ipadutah.org/"},{"Account_Name__c":"The National Society for Phenylketonuria","Website__c":"https://www.nspku.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010324","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1842357","Source__c":"C5680203","Xref__c":"MEDGEN:1842357"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5680203","Source__c":"C5680203","Xref__c":"C5680203"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019258","Source__c":"GARD:0010324","Xref__c":"MONDO:0019258"}],"Inheritance__c":["Autosomal recessive"],"tags":{},"synonyms":["mild pku"," mpku"," variant phenylketonuria"," variant pku"]}