{"orpha":79096,"name":"Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["P5PD-DEE","PNPO-related neonatal epileptic encephalopathy","Pyridoxal phosphate-dependent seizures","Pyridoxal phosphate-responsive seizures","Pyridoxamine 5'-phosphate oxidase deficiency"],"definition":"A very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79096/","orphanet_url":"https://www.orpha.net/en/disease/detail/79096","names":{"fr":{"name":"Encéphalopathie développementale et épileptique pyridoxal-phosphate dépendante","synonyms":["Convulsions sensibles au phosphate de pyridoxal","Encéphalopathie épileptique néonatale associée à PNPO","P5PD-DEE"],"definition":"Encéphalopathie épileptique néonatale très rare, caractérisée par l'apparition quelques heures après la naissance de convulsions sévères insensibles aux traitements anticonvulsifs mais sensibles au traitement par le phosphate de pyridoxal."},"de":{"name":"Pyridoxalphosphat-abhängige entwicklungsbedingte und epileptische Enzephalopathie","synonyms":["P5PD-DEE","PNPO-Mangel","PNPO-assoziierte neonatale epileptische Enzephalopathie","Pyridoxal-Phosphat-abhängige Krämpfe","Pyridoxalphosphat-abhängige Krämpfe","Pyridoxamin-5'-phosphat-Oxidase-Mangel"],"definition":"Eine sehr seltene neonatale epileptisch-enzephalopathische Störung, die klinisch durch das Auftreten schwerer Anfälle innerhalb weniger Stunden nach der Geburt gekennzeichnet ist, die auf Antikonvulsiva nicht ansprechen, wohl aber auf eine Behandlung mit Pyridoxalphosphat."},"es":{"name":"Encefalopatía epiléptica y del desarrollo por deficiencia de piridoxamina-5-fosfato","synonyms":["Crisis dependientes de piridoxal fosfato","Crisis sensibles al piridoxal fosfato","Deficiencia de piridoxamina 5'-fosfato oxidasa","EED-P5PD","Encefalopatía epiléptica neonatal asociada a PNPO"],"definition":"Es una encefalopatía epiléptica neonatal muy poco frecuente que se caracteriza clínicamente por la aparición de crisis graves en las primeras horas del nacimiento que no responden a anticonvulsivos, pero que responden al tratamiento con piridoxal fosfato."},"it":{"name":"Convulsioni sensibili al piridossal fosfato","synonyms":["Convulsioni dipendenti dal piridossal fosfato","Deficit di piridossamina 5'-fosfato ossidasi","Encefalopatia epilettica neonatale associata a PNPO"],"definition":"Le convulsioni sensibili al piridossalfosfato riguardano un'encefalopatia epilettica neonatale molto rara caratterizzata dal manifestarsi, poche ore dopo la nascita, di convulsioni gravi, che sono refrattarie agli anticonvulsivanti, ma sono sensibili al trattamento con il piridossalfosfato."},"nl":{"name":"Deficiëntie van pyridoxamine-5-fosfaat - epileptische encefalopathie met ontwikkelingsstoornis","synonyms":["Deficiëntie van pyridoxamine 5´-fosfaatoxidase","P5PD-DEE","PNPO-gerelateerde neonatale epileptische encefalopathie","Pyridoxaalfosfaatafhankelijke insulten","Pyridoxaalfosfaatresponsieve insulten"],"definition":"Een zeer zeldzame neonatale epileptische encefalopathie, klinisch gekenmerkt door aanvang binnen enkele uren na de geboorte van ernstige insulten die niet reageren op anticonvulsiva, maar wel op behandeling met pyridoxaalfosfaat."},"pt":{"name":"Encefalopatia epiléptica e do desenvolvimento devido a deficiência de piridoxamina-5-fosfato","synonyms":["Convulsões piridoxal-fosfato dependentes","Convulsões sensíveis ao piridoxal-fosfato","Deficiência de piridoxamina-5-fosfato oxidase","Encefalopatia epilética neonatal PNPO-relacionada","P5PD-DEE"]},"pl":{"name":"Napady reagujące na fosforan pirydoksalu","synonyms":["Napady zależne od fosforanu pirydoksalu","Niedobór 5'-oksydazy pirydoksaminy","Niedobór oksydazy 5'-fosforanu pirydoksyaminy","Niedobór PNPO","Noworodkowa encefalopatia epileptyczna związana z PNPO"]},"cs":{"name":"Křeče reagující na pyridoxal-fosfát","synonyms":["Deficit PNPO","Pyridoxal-fosfát dependentní epilepsie","Deficit pyridoxamin 5´ oxidázy","Deficit pyridox(am)in 5´-fosfát oxidázy","Neonatální epileptická encefalopatie podmíněná mutacemi v PNPO genu"]},"uk":{"name":"Судоми, чутливі до піридоксальфосфату","synonyms":["Дефіцит PNPO","Неонатальна епілептична енцефалопатія, повязана з PNPO","Піридоксальфосфат-залежні судоми","Дефіцит піридоксамін 5-оксидази","Дефіцит піридоксамін 5-фосфат-оксидази"],"definition":"A very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate."},"zh":{"name":"磷酸吡哆醛反应性癫痫","synonyms":["PNPO相关性新生儿癫痫性脑病"]},"tr":{"name":"Piridoksal fosfata duyarlı nöbetler","synonyms":["PNPO eksikliği","Piridoksamin 5'-oksidaz eksikliği","Piridoksal fosfata bağımlı nöbetler","Piridoksamin 5'-fosfat oksidaz eksikliği","PNPO-ilişkili yenidoğan epileptik ensefalopati"]}},"xrefs":[{"source":"OMIM","code":"610090","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C63.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"604024463"},{"source":"MONDO","code":"0012407","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566449","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1864723","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10730","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":309833,"name":"Disorder of other vitamins and cofactors metabolism and transport","classifications":[150,156]},{"orpha":79192,"name":"Disorder of pyridoxine metabolism","classifications":[150,156]},{"orpha":225707,"name":"Metabolic neurotransmission anomaly with epilepsy","classifications":[156,181]},{"orpha":693802,"name":"Neonatal/infantile-onset epilepsy syndrome","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PNPO","name":"pyridoxamine 5'-phosphate oxidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"15772097[PMID]","hgnc":"30260","ensembl":"ENSG00000108439","omim":"603287","loci":["17q21.32"]}],"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"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2018[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-09-10","source":"12747882[PMID]_24645144[PMID]_24658933[PMID]_12200739[PMID]","terms":[{"hpo":"HP:0200134","label":"Epileptic encephalopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001560","label":"Abnormality of the amniotic fluid","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003785","label":"Decreased CSF homovanillic acid concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010851","label":"EEG with burst suppression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002283","label":"Global brain atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025430","label":"High-pitched cry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005961","label":"Hypoargininemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030917","label":"Low APGAR score","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010904","label":"Abnormal circulating histidine concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010909","label":"Abnormality of arginine metabolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010895","label":"Abnormality of glycine metabolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010900","label":"Abnormality of threonine metabolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010917","label":"Abnormality of tyrosine metabolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005522","label":"Pyridoxine-responsive sideroblastic anemia","frequency":"Occasional (29-5%)","criteria":null}]}}