{"Name":"Fatal multiple mitochondrial dysfunctions syndrome","DiseaseID__c":"GARD:0012632","id":12632,"encodedName":"fatal-multiple-mitochondrial-dysfunctions-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Fatal multiple mitochondrial dysfunctions syndrome","Xref_IDs__c":"720827002; C3502075; C565304; DOID:0070330; MEDGEN:502474; MONDO:0017338; OMIMPS:605711; ORPHA:289573","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0017338","Disease_Description__c":"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.","GARD_Name__c":"Fatal multiple mitochondrial dysfunctions syndrome","GARD_Synonym__c":"mmds - multiple mitochondrial dysfunctions syndrome; multiple mitochondrial dysfunctions syndrome","Curated_Disease_Description_Source__c":"GARD:0012632","Curated_Disease_Description__c":"Multiple mitochondrial dysfunctions syndrome is characterized by impairment of cellular structures called mitochondria, which are the energy-producing centers of cells. While certain mitochondrial disorders are caused by impairment of a single stage of energy production, individuals with multiple mitochondrial dysfunctions syndrome have reduced function of more than one stage. The signs and symptoms of this severe condition begin early in life, and affected individuals usually do not live past infancy. Affected infants typically have severe brain dysfunction (encephalopathy), which can contribute to weak muscle tone (hypotonia), seizures, and delayed development of mental and movement abilities (psychomotor delay). These infants often have difficulty growing and gaining weight at the expected rate (failure to thrive). Most affected babies have a buildup of a chemical called lactic acid in the body (lactic acidosis), which can be life-threatening. They may also have high levels of a molecule called glycine (hyperglycinemia) or elevated levels of sugar (hyperglycemia) in the blood. Some babies with multiple mitochondrial dysfunctions syndrome have high blood pressure in the blood vessels that connect to the lungs (pulmonary hypertension) or weakening of the heart muscle (cardiomyopathy).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:289573","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017338","ORPHANET_ID__c":"ORPHA:289573","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de disfunción mitocondrial múltiple","Spanish_Description_Source__c":"ORPHA:289573","Spanish_Description__c":"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.","Spanish_Disease_Name__c":"síndrome de disfunción mitocondrial múltiple","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Multiple mitochondrial dysfunctions syndrome is characterized by impairment of cellular structures called mitochondria, which are the energy-producing centers of cells. While certain mitochondrial disorders are caused by impairment of a single stage of energy production, individuals with multiple mitochondrial dysfunctions syndrome have reduced function of more than one stage. The signs and symptoms of this severe condition begin early in life, and affected individuals usually do not live past infancy. Affected infants typically have severe brain dysfunction (encephalopathy), which can contribute to weak muscle tone (hypotonia), seizures, and delayed development of mental and movement abilities (psychomotor delay). These infants often have difficulty growing and gaining weight at the expected rate (failure to thrive). Most affected babies have a buildup of a chemical called lactic acid in the body (lactic acidosis), which can be life-threatening. They may also have high levels of a molecule called glycine (hyperglycinemia) or elevated levels of sugar (hyperglycemia) in the blood. Some babies with multiple mitochondrial dysfunctions syndrome have high blood pressure in the blood vessels that connect to the lungs (pulmonary hypertension) or weakening of the heart muscle (cardiomyopathy).","Curated_Disease_Description_Source__c":"GARD:0012632","GARD_Synonym__c":"mmds - multiple mitochondrial dysfunctions syndrome; multiple mitochondrial dysfunctions syndrome","Name":"Fatal multiple mitochondrial dysfunctions syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"United Mitochondrial Disease Foundation","Website__c":"https://www.umdf.org"},{"Account_Name__c":"MitoAction","Website__c":"https://www.mitoaction.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial diseases"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3502075"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/phenotypicSeries/PS605711","Source__c":"MONDO:0017338","Xref__c":"OMIMPS:605711"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3502075","Source__c":"C3502075","Xref__c":"C3502075"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=502474","Source__c":"C3502075","Xref__c":"MEDGEN:502474"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070330","Source__c":"MONDO:0017338","Xref__c":"DOID:0070330"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565304","Source__c":"MONDO:0017338","Xref__c":"C565304"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720827002","Source__c":"C3502075; MONDO:0017338","Xref__c":"720827002"},{"URL__c":"https://www.orpha.net/en/disease/detail/289573","Source__c":"C3502075; MONDO:0017338; ORPHA:289573","Xref__c":"ORPHA:289573"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017338","Source__c":"GARD:0012632","Xref__c":"MONDO:0017338"},{"URL__c":"https://medlineplus.gov/genetics/condition/multiple-mitochondrial-dysfunctions-syndrome","Source__c":"GARD:0012632","Xref__c":"https://medlineplus.gov/genetics/condition/multiple-mitochondrial-dysfunctions-syndrome"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Neurology"],"Account":["Mitochondrial"]},"synonyms":["mmds - multiple mitochondrial dysfunctions syndrome"," multiple mitochondrial dysfunctions syndrome"]}