{"orpha":79651,"name":"Mild hyperphenylalaninemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Mild HPA","Non-PKU HPA","mHPA"],"definition":"A rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by blood phenylalanine (Phe) concentrations of 120-600 micromol/L with or without clinical manifestations of impaired cognitive function, and behavioral and developmental disorders.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79651/","orphanet_url":"https://www.orpha.net/en/disease/detail/79651","names":{"fr":{"name":"Hyperphénylalaninémie modérée","synonyms":["HMP","HPA modérée","HPA non PCU","Hyperphénylalaninémie modérée permanente","Non-PKU HPA","mHPA"],"definition":"Forme rare de phénylcétonurie, une erreur innée du métabolisme des acides aminés, caractérisée par des taux sanguins de phénylalanine (Phe) compris entre 120 et 600 micromole/L accompagnée ou pas de signes cliniques d'une altération de la fonction cognitive et de troubles du comportement et du développement."},"de":{"name":"Hyperphenylalaninämie, milde","synonyms":["Milde HPA","Non-PKU HPA","mHPA"],"definition":"Eine seltene Form der Phenylketonurie, einer angeborenen Störung des Aminosäurestoffwechsels, die durch Phenylalanin (Phe)-Konzentrationen im Blut von 120-600 Mikromol/L mit oder ohne klinische Manifestationen von kognitiver Beeinträchtigung, Verhaltens- und Entwicklungsstörungen gekennzeichnet ist."},"es":{"name":"Hiperfenilalaninemia leve","synonyms":["HPA leve","HPA no PKU","mHPA"],"definition":"Es una forma poco frecuente de fenilcetonuria, un error congénito del metabolismo de los aminoácidos, caracterizado por concentraciones de fenilalanina (Phe) en sangre de 120-600 micromol/L con o sin manifestaciones clínicas de afectación de la función cognitiva o trastornos de conducta o del desarrollo."},"it":{"name":"Iperfenilalaninemia lieve","synonyms":["HPA lieve","HPA non-PKU","mHPA"],"definition":"Si tratta di una forma rara di fenilchetonuria, un errore congenito del metabolismo degli aminoacidi, caratterizzata da concentrazioni di fenilalanina (Phe) nel sangue di 120-600 micromol/L, con o senza compromissione della funzione cognitiva ed anomalie comportamentali e dello sviluppo."},"nl":{"name":"Milde hyperfenylalaninemie","synonyms":["Milde HPA","Niet-PKU HPA","mHPA"],"definition":"Een zeldzame vorm van fenylketonurie, een aangeboren defect van aminozuurmetabolisme, gekarakteriseerd door concentraties van fenylalanine (Phe) in bloed van 120-600 micromol/L, wel of geen klinische manifestaties van cognitieve functiestoornis, en gedrags- en ontwikkelingsstoornissen."},"pt":{"name":"Hiperfenilalaninemia ligeira","synonyms":["HPA ligeira","HPA não-PKU","mHPA"],"definition":"A Hiperfenilalaninemia leve (HPA) é uma forma rara de fenilcetonúria (ver este termo), uma doença congénita do metabolismo dos aminoácidos, caracterizada por sintomas leves de HPA."},"pl":{"name":"Hiperfenylalaninemia łagodna","synonyms":["Łagodna HPA","mHPA","Non-PKU HPA"]},"cs":{"name":"Mírná hyperfenylalaninémie","synonyms":["Mírná HPA","Non-PKU HPA","mHPA"]},"uk":{"name":"Легка гіперфенілаланінемія","synonyms":["mHPA","Мяка ГФА","Не-ФКУ ГФА"],"definition":"A rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by blood phenylalanine (Phe) concentrations of 120-600 micromol/L with or without clinical manifestations of impaired cognitive function, and behavioral and developmental disorders."},"zh":{"name":"轻型高苯丙氨酸血症","synonyms":["Mild HPA","Non-PKU HPA","mHPA"]},"tr":{"name":"Hafif hiperfenilalaninemi","synonyms":["mHPA","Hafif HPA","PKU olmayan HPA"]}},"xrefs":[{"source":"OMIM","code":"261600","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1941919313"},{"source":"MONDO","code":"0019335","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680207","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":708881,"name":"Phenylalanine hydroxylase deficiency","classifications":[150,156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}