{"orpha":289290,"name":"Hypermethioninemia encephalopathy due to adenosine kinase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ADK hypermethioninemia","Hypermethioninemia encephalopathy due to ADK deficiency"],"definition":"Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-289290/","orphanet_url":"https://www.orpha.net/en/disease/detail/289290","names":{"fr":{"name":"Encéphalopathie associée à une hyperméthioninémie par déficit en adénosine kinase","synonyms":["Encéphalopathie associée à une hyperméthioninémie par déficit en ADK"],"definition":"L'encéphalopathie associée à une hyperméthioninémie par déficit en adénosine kinase est une erreur innée et rare du métabolisme, caractérisée par une hyperméthioninémie persistante avec des taux élevés de S-adénosylméthionine et de S-adénosylhomocystéine. Elle se manifeste par une encéphalopathie, un retard sévère du développement global, une dysfonction hépatique légère à sévère, une hypotonie et une dysmorphie faciale (les signes les plus significatifs sont une bosse frontale, une macrocéphalie, un hypertélorisme et un pont nasal déprimé). Des crises d'épilepsie, une hypoglycémie et/ou des anomalies cardiaques (sténose pulmonaire, communication interauriculaire et/ou interventriculaire, coarctation de l'aorte) peuvent être associées. Le tableau clinique varie d'une atteinte uniquement neurologique à une atteinte de plusieurs organes."},"de":{"name":"Enzephalopathie bei Hypermethioninämie durch Adenosinkinase-Mangel","synonyms":["ADK-Hypermethioninämie","Hypermethioninämische Enzephalopathie durch ADK-Mangel"],"definition":"Die Hypermethioninämie-Enzephalopathie aufgrund von Adenosinkinasemangel ist ein seltener angeborener Fehler der Stoffwechselstörung, der durch anhaltende Hypermethioninämie mit erhöhtem S-Adenosylmethionin- und S-Adenosylhomocysteinspiegel gekennzeichnet ist. Die Störung manifestiert sich durch Enzephalopathie, schwere globale Entwicklungsverzögerung, leichte bis schwere Leberfunktionsstörung, Hypotonie und Gesichtsdysmorphismus (signifikante Merkmale sind prominente Stirn, Makrozephalie, Hypertelorismus und abgeflachter Nasenrücken). Epileptische Anfälle, Hypoglykämie und/oder Herzfehler (Lungenstenose, Vorhof- und/oder Kammerseptumdefekt, Koarktation der Aorta) können assoziiert sein. Das klinische Bild kann von neurologischen Symptomen bis hin zur Beteiligung mehrerer Organe reichen."},"es":{"name":"Encefalopatía con hipermetioninemia por deficiencia de adenosina quinasa","synonyms":["Encefalopatía con hipermetioninemia por deficiencia de ADK","Hipermetioninemia ADK"],"definition":"La encefalopatía con hipermetioninemia por deficiencia de adenosina quinasa es un trastorno de errores congénitos del metabolismo caracterizado por hipermetioninemia persistente con niveles elevados de S-adenosilmetionina y S-adenosilhomocisteína, que se manifiesta con encefalopatía, grave retraso generalizado del desarrollo, disfunción hepática de leve a grave, hipotonía y dismorfia facial (siendo los más significativos el abombamiento frontal, la macrocefalia, el hipertelorismo y el puente nasal hundido). Puede estar asociada a crisis epilépticas, hipoglucemia y/o defectos cardíacos (estenosis pulmonar, defectos del tabique auricular y/o ventricular, coartación aórtica). El cuadro clínico puede fluctuar desde sólo síntomas neurológicos a afectación multiorgánica."},"it":{"name":"Encefalopatia associata a ipermetioninemia da deficit di adenosina chinasi","synonyms":["Encefalopatia associata a ipermetioninemia da deficit di ADK","Ipermetioninemia ADK"],"definition":"L'encefalopatia associata a ipermetioninemia da deficit di adenosina chinasi è un difetto raro congenito del metabolismo, caratterizzato da ipermetioninemia persistente con aumento dei livelli di S-adenosil-metionina e S-adenosil-omocisteina, che esordisce con encefalopatia, grave ritardo dello sviluppo globale, disfunzione epatica lieve o grave, ipotonia e dismorfismi facciali (in particolare fonte prominente, macrocefalia, ipertelorismo, sella nasale infossata). Possono associarsi crisi epilettiche, ipoglicemia e/o cardiopatie (stenosi polmonare, difetto del setto atriale e/o ventricolare e coartazione dell'aorta). Il quadro clinico è variabile con segni neurologici isolati fino all'interessamento multiorgano."},"nl":{"name":"Encefalopathie met hypermethioninemie door deficiëntie van adenosinekinase","synonyms":["ADK-hypermethioninemie","Encefalopathie met hypermethioninemie door ADK-deficiëntie"],"definition":"Hypermethioninemie-encefalopathie door adenosinekinasedeficiëntie is een zeldzame aangeboren stofwisselingsziekte en wordt gekarakteriseerd door aanhoudende hypermethioninemie met verhoogde gehaltes van S-adenosylmethionine en S-adenosylhomocysteïne, die zich manifesteert met encefalopathie, ernstige algemene ontwikkelingsachterstand, milde tot ernstige dysfunctie van de lever, hypotonie en faciale dysmorfie (meest significant zijn een bol voorhoofd, macrocefalie, hypertelorisme en ingezonken neusbrug). Epileptische aanvallen, hypoglykemie en/of hartdefecten (pulmonale stenose, atriaal en/of ventriculair septumdefect, coarctatio aortae) kunnen geassocieerd zijn. Het klinisch beeld kan gaan van enkel neurologische symptomen tot betrokkenheid van meerdere organen."},"pt":{"name":"Encefalopatia associada a hipermetioninemia por deficiência da adenosina cinase","synonyms":["Encefalopatia associada a hipermetioninemia por deficiência de ADK","Hipermetioninemia ADK"]},"pl":{"name":"Encefalopatia z hipermetioninemią z powodu niedoboru kinazy adenozyny","synonyms":["Encefalopatia z hipermetioninemią z powodu niedoboru ADK","Hipermetioninemia ADK"]},"cs":{"name":"Hypermethioninémie a encefalopatie způsobená deficitem adenozinkinázy","synonyms":["ADK hypermethioninémie","Hypermethioninémie a encefalopatie způsobená deficitem ADK"]},"uk":{"name":"Гіперметіонінемічна енцефалопатія внаслідок дефіциту аденозинкінази","synonyms":["Гіперметіонінемія АДК","Гіперметіонінемічна енцефалопатія внаслідок дефіциту АДК"],"definition":"Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement."},"zh":{"name":"腺苷激酶缺陷所致高蛋氨酸血症脑病","synonyms":["ADK缺陷所致高蛋氨酸血症脑病"],"definition":"腺苷激酶缺乏所致高蛋氨酸血症脑病是一种罕见的先天性代谢异常，其特征是持续性高蛋氨酸血症，S-腺苷蛋氨酸和S-腺苷同型半胱氨酸水平升高，表现为脑病、重度全面发育迟缓、轻度到重度肝功能障碍，肌张力低下和面部畸形（最显著的是前额突出、大头畸形、眼距过宽和鼻梁凹陷）。可能与痫性惊厥、低血糖和/或心脏缺陷（肺动脉狭窄、房间隔和/或室间隔缺损、主动脉缩窄）有关。临床表现可从单神经系统症状到多器官受累。"},"tr":{"name":"Adenozin kinaz eksikliğine bağlı hipermetiyoninemi ensefalopati","synonyms":["ADK hipermetioninemi","ADK eksikliğine bağlı hipermetioninemi ensefalopatisi"]}},"xrefs":[{"source":"OMIM","code":"614300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"119731291"},{"source":"UMLS","code":"C4706555","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":79173,"name":"Disorder of methionine cycle and sulfur amino acid metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ADK","name":"adenosine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21963049[PMID]","hgnc":"257","ensembl":"ENSG00000156110","omim":"102750","loci":["10q22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}