{"orpha":555407,"name":"NAD(P)HX epimerase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Apolipoprotein A-I binding protein deficiency"],"definition":"A rare neurometabolic disease characterized by infantile onset of rapidly progressive neurological deterioration, typically precipitated by a febrile illness. Patients present with hypotonia, loss of previously acquired motor milestones and cognitive skills, ataxia, nystagmus, tremor, seizures, tetraparesis, and respiratory failure, eventually resulting in a vegetative state. Imaging of the brain and spinal cord may show white matter abnormalities, cerebral atrophy, cerebellar edema, and spinal myelopathy. Subacute development of extensive bullous skin lesions within weeks of onset of neurological symptoms has also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-555407/","orphanet_url":"https://www.orpha.net/en/disease/detail/555407","names":{"fr":{"name":"Déficit en NAD(P)HX épimérase","synonyms":["Déficit en protéine de liaison apolipoprotéine A-I"],"definition":"Maladie neurologique rare caractérisée par l'apparition infantile d'une détérioration neurologique rapidement progressive, généralement précipitée par une maladie fébrile. Les patients manifestent une hypotonie, une absence des étapes du développement moteur et des capacités cognitives acquises antérieurement, une ataxie, un nystagmus, des tremblements, des crises convulsives, une tétraparésie et une insuffisance respiratoire, aboutissant finalement à un état végétatif. L'IRM du cerveau et de la moelle épinière peut révéler des anomalies de la substance blanche, une atrophie cérébrale, un oedème cérébelleux et une myélopathie spinale. Un développement subaigu de lésions cutanées bulleuses étendues dans les semaines suivant l'apparition des symptômes neurologiques a également été rapporté."},"de":{"name":"NAD(P)HX-Epimerase-Mangel","synonyms":["Apolipoprotein A-I-Binding-Protein-Mangel"],"definition":"Eine seltene neurometabolische Erkrankung, die durch einen im Kindesalter einsetzenden, rasch fortschreitenden neurologischen Verfall gekennzeichnet ist, der in der Regel durch eine fieberhafte Erkrankung ausgelöst wird. Die Patienten zeigen Hypotonie, den Verlust zuvor erworbener motorischer Meilensteine und kognitiver Fähigkeiten, Ataxie, Nystagmus, Tremor, Krampfanfälle, Tetraparese und Atemstillstand, was schließlich zu einem vegetativen Zustand führt. Die Bildgebung des Gehirns und des Rückenmarks kann Anomalien der weißen Substanz, zerebrale Atrophie, Kleinhirnödeme und spinale Myelopathie zeigen. Es wurde auch über die subakute Entwicklung ausgedehnter bullöser Hautläsionen innerhalb von Wochen nach Auftreten der neurologischen Symptome berichtet."},"es":{"name":"Deficiencia de NAD(P)HX epimerasa","synonyms":["Deficiencia de proteína de unión apolipoproteína A-I"],"definition":"Es una enfermedad neurometabólica poco frecuente caracterizada por el inicio en la lactancia de un deterioro neurológico rápidamente progresivo, desencadenado típicamente por una enfermedad febril. Los pacientes se presentan con hipotonía, pérdida de los hitos del desarrollo motor y de las habilidades cognitivas previamente adquiridos, ataxia, nistagmo, temblor, crisis epilépticas, tetraparesia e insuficiencia respiratoria, que evolucionan finalmente a un estado vegetativo. Las imágenes cerebrales y de la médula espinal pueden mostrar anomalías de la sustancia blanca, atrofia cerebral, edema cerebeloso y mielopatía espinal. También se ha descrito el desarrollo subagudo de lesiones cutáneas ampollosas extensas a las pocas semanas del inicio de los síntomas neurológicos."},"it":{"name":"Deficit di NAD(P)HX epimerasi","definition":"Si tratta di una malattia neurometabolica rara, caratterizzata dal deterioramento neurologico ad esordio infantile e a progressione rapida, in genere scatenato da una malattia febbrile. I pazienti presentano ipotonia, perdita delle competenze motorie e cognitive già acquisite, atassia, nistagmo, tremore, crisi epilettiche, tetraparesi e insufficienza respiratoria, che esitano in uno stato vegetativo. Le neuroimmagini del cervello e del midollo spinale evidenziano anomalie della sostanza bianca, atrofia cerebrale, edema cerebellare e mielopatia spinale. I pazienti possono sviluppare lesioni cutanee bollose estese subacute alcune settimane dopo l'esordio dei sintomi neurologici."},"nl":{"name":"NAD(P)HX-epimerasedeficiëntie","synonyms":["Deficiëntie van apolipoproteïne A-I-bindingsproteïne"],"definition":"Een zeldzame neurometabole aandoening, gekarakteriseerd door infantiele aanvang van snel progressieve neurologische aftakeling, doorgaans uitgelokt door febriele ziekte. Patiënten presenteren zich met hypotonie, verlies van eerder verworven motorische mijlpalen en cognitieve vaardigheden, ataxie, nystagmus, tremor, insulten, tetraparese, en respiratoir falen, met uiteindelijk vegetatieve toestand tot gevolg. Beeldvorming van hersenen en ruggenmerg toont mogelijk afwijkingen van witte stof, cerebrale atrofie, cerebellair oedeem, en myelopathie van ruggenmerg. Subacute ontwikkeling van uitgebreide bulleuze laesies van huid binnen enkele weken na aanvang van neurologische symptomen werd ook reeds gerapporteerd."},"pt":{"name":"Deficiência de NAD(P)HX epimerase"},"pl":{"name":"Niedobór epimerazy NAD(P)HX","synonyms":["Apolipoprotein A-I binding protein deficiency"]},"cs":{"name":"Deficit NAD(P)HX epimerázy","synonyms":["Deficit vazebného proteinu apolipoproteinu A-I"]},"uk":{"name":"Дефіцит епімерази NAD(P)HX","synonyms":["Дефіцит аполіпопротеїну A-I, що звязує білок"],"definition":"A rare neurometabolic disease characterized by infantile onset of rapidly progressive neurological deterioration, typically precipitated by a febrile illness. Patients present with hypotonia, loss of previously acquired motor milestones and cognitive skills, ataxia, nystagmus, tremor, seizures, tetraparesis, and respiratory failure, eventually resulting in a vegetative state. Imaging of the brain and spinal cord may show white matter abnormalities, cerebral atrophy, cerebellar edema, and spinal myelopathy. Subacute development of extensive bullous skin lesions within weeks of onset of neurological symptoms has also been reported."},"zh":{"name":"NAD(P)HX表表异构酶缺乏","synonyms":["载脂蛋白A-I结合蛋白缺乏"]},"tr":{"name":"NAD (P) HX epimeraz eksikliği","synonyms":["Apolipoprotein A-I bağlayıcı protein eksikliği"]}},"xrefs":[{"source":"OMIM","code":"617186","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C5Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0020781","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4310675","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":91088,"name":"Other metabolic disease","classifications":[150,156]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]}],"children":[],"genes":[{"symbol":"NAXE","name":"NAD(P)HX epimerase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27616477[PMID]_27122014[PMID]_29884839[PMID]","hgnc":"18453","ensembl":"ENSG00000163382","omim":"608862","loci":["1q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"27616477[PMID]_27122014[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27616477[PMID]_27122014[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-01-14","source":"34678889[PMID]_35637064[PMID]_38419707[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011203","label":"EEG with abnormally slow frequencies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030890","label":"Hyperintensity of cerebral white matter on MRI","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002490","label":"Increased CSF lactate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002181","label":"Cerebral edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002352","label":"Leukoencephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011355","label":"Localized skin lesion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002196","label":"Myelopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}