{"orpha":2203,"name":"Hyperlysinemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hyperlysinemia type I","Lysine alpha-ketoglutarate reductase deficiency"],"definition":"A rare autosomal recessive disorder of lysine metabolism characterized by elevated levels of lysine in the cerebrospinal fluid and blood. Hyperlysinemia type I has been associated with a highly variable phenotype including seizures, hypotonia, and mild psychomotor delay, although isolated hyperlysinemia is probably a benign condition.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2203/","orphanet_url":"https://www.orpha.net/en/disease/detail/2203","names":{"fr":{"name":"Hyperlysinémie","synonyms":["Déficit en lysine alpha-cétoglutarate réductase","Hyperlysinémie type I"],"definition":"Trouble autosomique récessif rare du métabolisme de la lysine caractérisé par des taux élevés de lysine dans le liquide cérébrospinal et dans le sang. L'hyperlysinémie type 1 a été associée à un phénotype très variable comprenant des crises convulsives, une hypotonie et un léger retard psychomoteur, bien que l'hyperlysinémie isolée soit probablement une affection bénigne."},"de":{"name":"Hyperlysinämie","synonyms":["Hyperlysinämie Typ I","Lysin-alpha-Ketoglutarat-Reduktase-Mangel"],"definition":"Eine seltene autosomal-rezessive Störung des Lysinstoffwechsels, die durch erhöhte Lysinwerte in der zerebrospinalen Flüssigkeit und im Blut gekennzeichnet ist. Hyperlysinämie Typ I wurde mit einem sehr variablen Phänotyp in Verbindung gebracht, der Anfälle, Hypotonie und eine leichte psychomotorische Verzögerung umfasst, obwohl eine isolierte Hyperlysinämie wahrscheinlich eine gutartige Erkrankung ist."},"es":{"name":"Hiperlisinemia","synonyms":["Deficiencia de lisina alfa-cetoglutarato reductasa","Hiperlisinemia tipo 1"],"definition":"Es un trastorno del metabolismo de la lisina poco frecuente, autosómico recesivo, caracterizado por niveles elevados de lisina en el líquido cefalorraquídeo y en sangre. La hiperlisinemia tipo I se ha asociado con un fenotipo muy variable que incluye crisis epilépticas, hipotonía y retraso psicomotor leve, aunque la hiperlisinemia aislada probablemente sea una afección benigna."},"it":{"name":"Iperlisinemia","synonyms":["Deficit di lisina alfa-chetoglutarato reduttasi","Iperlisinemia, tipo I"]},"nl":{"name":"Hyperlysinemie","synonyms":["Deficiëntie van lysine alfa-ketoglutaraat-reductase","Hyperlysinemie type I"],"definition":"Een zeldzame autosomaal recessieve aandoening van metabolisme van lysine, gekenmerkt door verhoogde gehaltes van lysine in cerebrospinaal vocht en bloed. Hyperlysinemie type I is geassocieerd met een zeer variabel fenotype, met onder meer insulten, hypotonie, en milde psychomotorische achterstand, maar geïsoleerde hyperlysinemie is waarschijnlijk een goedaardige aandoening."},"pt":{"name":"Hiperlisinemia","synonyms":["Deficiência de lisina alfa-cetoglutarato redutase","Hiperlisinemia tipo I"],"definition":"Doença rara do metabolismo da lisina, autossómica recessiva, caracterizada por níveis elevados de lisina no líquido cefalorraquidiano e no sangue. A hiperlisinemia tipo I tem sido associada a um fenótipo altamente variável, incluindo convulsões, hipotonia e atraso psicomotor leve, embora a hiperlisinemia isolada seja provavelmente uma situação benigna."},"pl":{"name":"Hiperlizynemia","synonyms":["Hiperlizynemia typu I","Niedobór reduktazy lizyny alfa-keto glutarowej"],"definition":"Rzadkie, dziedziczone autosomalnie recesywnie zaburzenie metabolizmu lizyny charakteryzujące się podwyższonym poziomem lizyny w płynie mózgowo-rdzeniowym i krwi. Hiperlizynemię typu I powiązano z bardzo zmiennym fenotypem, obejmującym drgawki, hipotonię i łagodne opóźnienie psychoruchowe, chociaż izolowana hiperlizynemia jest prawdopodobnie stanem łagodnym."},"cs":{"name":"Hyperlysinémie","synonyms":["Hyperlysinémie, typ I","Deficit lysin alfa-ketoglutarát reduktázy"]},"uk":{"name":"Гіперлізинемія","synonyms":["Гіперлізінемія I типу","Дефіцит лізин-альфа-кетоглутаратредуктази"],"definition":"A rare autosomal recessive disorder of lysine metabolism characterized by elevated levels of lysine in the cerebrospinal fluid and blood. Hyperlysinemia type I has been associated with a highly variable phenotype including seizures, hypotonia, and mild psychomotor delay, although isolated hyperlysinemia is probably a benign condition."},"zh":{"name":"高赖氨酸血症","synonyms":["赖氨酸α酮戊二酸还原酶缺乏性疾病"]},"tr":{"name":"Hiperlizinemi","synonyms":["Hiperlisinemi tip I","Lizin alfa-ketoglutarat redüktaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"238700","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"238710","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C50.4","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1082131329"},{"source":"MONDO","code":"0009388","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020167","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268553","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2828","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081311","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":289832,"name":"Disorder of lysine and hydroxylysine metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"AASS","name":"aminoadipate-semialdehyde synthase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23570448[PMID]_23890588[PMID]_10775527[PMID]","hgnc":"17366","ensembl":"ENSG00000008311","omim":"605113","loci":["7q31.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-07-15","source":"23890588[PMID]_23570448[PMID]","terms":[{"hpo":"HP:0500243","label":"Abnormal CSF ornithine concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003268","label":"Argininuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003131","label":"Cystinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0500204","label":"Decreased CSF arginine concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012403","label":"Decreased urine alpha-ketoglutarate concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010850","label":"EEG with spike-wave complexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002161","label":"Hyperlysinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003297","label":"Hyperlysinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0500163","label":"Hypoornithinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0500208","label":"Increased CSF lysine concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001348","label":"Brisk reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009739","label":"Hypoplasia of the antihelix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008589","label":"Hypoplastic helices","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006889","label":"Intellectual disability, borderline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040288","label":"Nasogastric tube feeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031867","label":"Neck hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002179","label":"Opisthotonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002275","label":"Poor motor coordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004971","label":"Pulmonary artery hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011171","label":"Simple febrile seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001264","label":"Spastic diplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045074","label":"Thin eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025331","label":"Upgaze palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null}]}}