{"orpha":289573,"name":"Multiple mitochondrial dysfunctions syndrome","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-289573/","orphanet_url":"https://www.orpha.net/en/disease/detail/289573","names":{"fr":{"name":"Syndrome de dysfonctionnements mitochondriaux multiples","definition":"Décrit un groupe d'erreurs innées et rares du métabolisme, causées par des anomalies de l'assemblage protéique [4Fe-4S] mitochondrial. Les patients présentent une acidose lactique métabolique pendant la période néonatale/la petite enfance (qui peut être associée à une hyperglycinémie et à d'autres résultats anormaux lors de l'analyse métabolique), une hypotonie musculaire, une absence de développement psychomoteur ou une régression du développement, ainsi que des anomalies en neuro-imagerie (dont une leucodystrophie, des anomalies du développement cérébral, des anomalies de la substance blanche, une atrophie cérébrale), et d'autres signes cliniques variables (comme une atrophie optique, une cardiomyopathie, une hypertension pulmonaire, des convulsions et une dysmorphie). La maladie est habituellement fatale précocement."},"de":{"name":"Syndrom der multiplen mitochondrialen Dysfunktionen","definition":"Eine Gruppe von seltenen angeborenen Energiestoffwechselstörungen aufgrund von Defekten in der mitochondrialen [4Fe-4S]-Protein-Zusammenlagerung. Die Patienten zeigen im Neugeborenen-/Kleinkindalter eine metabolische Laktatazidose (die mit Hyperglykämie und anderen abnormalen metabolischen Testergebnissen einhergehen kann), Muskelhypotonie, fehlende psychomotorische Entwicklung oder Entwicklungsregression sowie abnormale Neuroimaging-Befunde (einschließlich Leukodystrophie, Entwicklungsstörungen des Gehirns, Anomalien der weißen Substanz, zerebrale Atrophie) und andere variable klinische Merkmale (z. B., Optikusatrophie, Kardiomyopathie, pulmonale Hypertonie, Krampfanfälle und dysmorphe Merkmale). In der Regel führt die Störung zu einem frühen tödlichen Verlauf."},"es":{"name":"Síndrome de disfunción mitocondrial múltiple","definition":"El síndrome de disfunción mitocondrial múltiple describe un grupo de errores congénitos del metabolismo energético poco frecuentes debidos a defectos en el ensamblaje de la proteína mitocondrial [4Fe-4S]. Los afectados presentan acidosis metabólica láctica de inicio neonatal o en el periodo de lactancia (que puede estar asociada con hiperglicinemia y otros resultados de pruebas metabólicas anómalos), hipotonía muscular, ausencia o regresión del desarrollo psicomotor, así como hallazgos anómalos en estudios de neuroimagen (incluyendo leucodistrofia, defectos del desarrollo cerebral, anomalías de la sustancia blanca, atrofia cerebral) y otras características clínicas variables (p. ej., atrofia óptica, cardiomiopatía, hipertensión pulmonar, convulsiones y características dismórficas). Por lo general, el pronóstico en poco tiempo es fatal."},"it":{"name":"Sindrome da disfunzione mitocondriale multipla","definition":"La sindrome da disfunzione mitocondriale multipla comprende un gruppo di difetti congeniti rari del metabolismo energetico, secondari a difetti nell'assemblaggio della proteina mitocondriale [4Fe-4S]. I pazienti presentano acidosi lattica metabolica ad esordio neonatale/infantile (che può associarsi ad iperglicinemia ed altre anomalie metaboliche), ipotonia muscolare, mancato sviluppo psicomotorio o regressione dello sviluppo e anomalie evidenti sulle neuroimmagini (leucodistrofia, anomalie dello sviluppo cerebrale e della sostanza bianca, atrofia cerebrale) ed altri segni clinici variabili (atrofia ottica, cardiomiopatia, ipertensione polmonare, crisi epilettiche e dismorfismi). Di solito i pazienti muoiono prematuramente."},"nl":{"name":"Multipele mitochondriale disfuncties-syndroom","definition":"Multipele mitochondriale disfuncties-syndroom beschrijft een groep aangeboren afwijkingen van het energiemetabolisme als gevolg van defecten in de mitochondriale [4Fe-4S] proteïne-assemblage. Patiënten vertonen neonatale/infantiele aanvang van metabole lactaatacidose (die kan geassocieerd zijn met hyperglycinemie en andere abnormale metabole testresultaten), musculaire hypotonie, afwezigheid van psychomotorische ontwikkeling of ontwikkelingsregressie, alsook abnormale bevindingen bij neurologische beeldvorming (inclusief leukodystrofie, ontwikkelingsdefect van de hersenen, afwijkingen van witte stof, cerebrale atrofie), en andere variabele klinische kenmerken (e.g. opticusatrofie, cardiomyopathie, pulmonale hypertensie, insulten, en dysmorfe kenmerken). Doorgaans komt een vroege fatale afloop voor."},"pt":{"name":"Síndrome de disfunção mitocondrial múltipla, fatal"},"pl":{"name":"Śmiertelny zespół mnogich dysfunkcji mitochondrialnych"},"cs":{"name":"Syndrom fatálních mnohočetných mitochondriálních dysfunkcí"},"uk":{"name":"Синдром множинних мітохондріальних дисфункцій","definition":"Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual."},"zh":{"name":"多发性线粒体功能障碍综合征","definition":"多发性线粒体功能障碍综合征是一组罕见的由于线粒体[4Fe-4S]蛋白组装缺陷所致先天性能量代谢异常。新生儿/婴儿期出现代谢性乳酸酸中毒（可能与高血糖和其他代谢检测异常有关）、肌张力低下、精神运动不发育或发育倒退，以及神经影像学异常（包括脑白质营养不良、脑发育缺陷、白质异常、脑萎缩）和其他多种临床特征（如视神经萎缩、心肌病、肺动脉高压、惊厥和畸形）。常见早期致命性结局。"},"tr":{"name":"Çoklu mitokondriyal disfonksiyon sendromu"}},"xrefs":[{"source":"MONDO","code":"0017338","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17338","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565304","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3502075","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12632","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":401854,"name":"Lipoic acid biosynthesis defect","classifications":[150,156]},{"orpha":309136,"name":"Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[{"orpha":401869,"name":"Multiple mitochondrial dysfunctions syndrome type 1","type":"Disease"},{"orpha":401874,"name":"Multiple mitochondrial dysfunctions syndrome type 2","type":"Disease"},{"orpha":363424,"name":"Multiple mitochondrial dysfunctions syndrome type 3","type":"Disease"},{"orpha":457406,"name":"Multiple mitochondrial dysfunctions syndrome type 4","type":"Disease"},{"orpha":569274,"name":"Multiple mitochondrial dysfunctions syndrome type 5","type":"Disease"},{"orpha":569290,"name":"Multiple mitochondrial dysfunctions syndrome type 6","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}