{"orpha":3124,"name":"Saccharopinuria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hyperlysinemia type II","Saccharopine dehydrogenase deficiency"],"definition":"A rare autosomal recessive disorder of the lysine catabolism characterized by elevated levels of lysine in the cerebrospinal fluid and blood with variable degrees of saccharopinuria. Some patients present with neurological symptoms such as seizures, spastic diplegia, mild psychomotor delay, intellectual deficit, and behavioral difficulties. However, current findings suggest no causal association between isolated hyperlysinemia and neurological symptoms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3124/","orphanet_url":"https://www.orpha.net/en/disease/detail/3124","names":{"fr":{"name":"Saccharopinurie","synonyms":["Déficit en saccharopine déshydrogénase","Hyperlysinémie type II"],"definition":"Trouble autosomique récessif rare du catabolisme de la lysine caractérisé par des taux élevés de lysine dans le liquide cérébrospinal et dans le sang, avec une saccharopinurie de degré variable. Certains patients présentent des symptômes neurologiques tels que des convulsions, une diplégie spastique, un léger retard psychomoteur, une déficience intellectuelle et des troubles du comportement. Toutefois, les données actuelles ne suggèrent aucun lien de cause à effet entre l'hyperlysinémie isolée et les symptômes neurologiques."},"de":{"name":"Saccharopinurie","synonyms":["Hyperlysinämie Typ II","Saccharopin-Dehydrogenase-Mangel"],"definition":"Eine seltene autosomal-rezessive Störung des Lysin-Katabolismus, die durch erhöhte Lysinwerte im Liquor und im Blut mit unterschiedlichem Ausmaß an Saccharopinurie gekennzeichnet ist. Einige Patienten zeigen neurologische Symptome wie Krampfanfälle, spastische Diplegie, leichte psychomotorische Verzögerungen, intellektuelle Defizite und Verhaltensstörungen. Die derzeitigen Erkenntnisse lassen jedoch keinen kausalen Zusammenhang zwischen isolierter Hyperlysinämie und neurologischen Symptomen erkennen."},"es":{"name":"Sacaropinuria","synonyms":["Deficiencia de sacaropina deshidrogenasa","Hiperlisinemia tipo 2"],"definition":"Es un trastorno poco frecuente del catabolismo de la lisina, autosómico recesivo, caracterizado por niveles elevados de lisina en el líquido cefalorraquídeo y en la sangre con grados variables de sacaropinuria. Algunos pacientes presentan síntomas neurológicos como crisis epilépticas, diplejía espástica, retraso psicomotor leve, déficit intelectual y trastornos de conducta. Sin embargo, los hallazgos actuales no sugieren una asociación causal entre la hiperlisinemia aislada y las manifestaciones neurológicas."},"it":{"name":"Saccaropinuria","synonyms":["Deficit di saccaropina deidrogenasi","Iperlisinemia, tipo II"]},"nl":{"name":"Saccharopinurie","synonyms":["Deficiëntie van saccharopine-dehydrogenase","Hyperlysinemie type II"],"definition":"Een zeldzame autosomaal recessieve aandoening van katabolisme van lysine, gekenmerkt door verhoogde gehaltes van lysine in cerebrospinaal vocht en bloed met variabele mate van saccharopinurie. Sommige patiënten vertonen neurologische symptomen zoals insulten, spastische diplegie, milde psychomotorische achterstand, intellectuele achterstand, en gedragsmoeilijkheden. De huidige bevindingen doen echter vermoeden dat er geen causale associatie is tussen geïsoleerde hyperlysinemie en neurologische symptomen."},"pt":{"name":"Sacaropinúria","synonyms":["Deficiência de sacaropina desidrogenase","Hiperlisinemia tipo II"],"definition":"Patologia autossómica recessiva rara do catabolismo da lisina caracterizada por níveis elevados de lisina no líquido cefalorraquidiano e no sangue com graus variáveis ​​de sacaropinúria. Alguns doentes apresentam sintomas neurológicos, como convulsões, diplegia espástica, atraso psicomotor leve, perturbação do desenvolvimento intelectual e dificuldades comportamentais. No entanto, a evidência atual sugere que não existe nenhuma associação causal entre hiperlisinemia isolada e sintomas neurológicos."},"pl":{"name":"Sacharopinuria","synonyms":["Hiperlizynemia typu II","Niedobór dehydrogenazy sacharopiny"],"definition":"Rzadkie, dziedziczone autosomalne recesywnie zaburzenie katabolizmu lizyny charakteryzujące się podwyższonym poziomem lizyny w płynie mózgowo-rdzeniowym i krwi oraz sacharopinurią o różnym stopniu nasilenia. U niektórych pacjentów występują objawy neurologiczne, takie jak drgawki, porażenie spastyczne dwukończynowe, łagodne opóźnienie psychoruchowe, deficyt intelektualny i zaburzenia zachowania. Jednakże najnowsze obserwacje sugerują brak związku przyczynowego pomiędzy izolowaną hiperlizynemią a objawami neurologicznymi."},"cs":{"name":"Saccharopinurie","synonyms":["Hyperlysinémie, typ II","Deficit saccharopin dehydrogenázy"]},"uk":{"name":"Сахаропінурія","synonyms":["Гіперлізинемія II типу","Дефіцит сахаропіндегідрогенази"],"definition":"A rare autosomal recessive disorder of the lysine catabolism characterized by elevated levels of lysine in the cerebrospinal fluid and blood with variable degrees of saccharopinuria. Some patients present with neurological symptoms such as seizures, spastic diplegia, mild psychomotor delay, intellectual deficit, and behavioral difficulties. However, current findings suggest no causal association between isolated hyperlysinemia and neurological symptoms."},"zh":{"name":"酵母丙氨酸尿症","synonyms":["酵母氨酸脱氢酶缺乏症"]},"tr":{"name":"Sakaropinuri","synonyms":["Hiperlisinemi tip II","Sakaropin dehidrojenaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"268700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.4","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1165310876"},{"source":"MONDO","code":"0010005","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537218","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268556","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"314","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":"10775527[PMID]_23570448[PMID]","hgnc":"17366","ensembl":"ENSG00000008311","omim":"605113","loci":["7q31.32"]}],"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":{"validation_status":"y","online":"y","validation_date":"2021-08-17","source":"33996359[PMID]_30573525[PMID]_32768327[PMID]","terms":[{"hpo":"HP:0011021","label":"Abnormality of circulating enzyme level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002161","label":"Hyperlysinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001507","label":"Growth abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003297","label":"Hyperlysinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032397","label":"Citrullinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003131","label":"Cystinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011966","label":"Elevated plasma citrulline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0500151","label":"Hypercystinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001264","label":"Spastic diplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}