{"Name":"Glutaryl-CoA oxidase deficiency","DiseaseID__c":"GARD:0012469","id":12469,"encodedName":"glutaryl-coa-oxidase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Glutaryl-CoA oxidase deficiency","Xref_IDs__c":"238070003; C0342873; C562818; DOID:0112246; MEDGEN:87464; MONDO:0009283; OMIM:231690; ORPHA:35706","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009283","Disease_Description__c":"A rare inborn error of metabolism characterized by abnormally high urinary excretion of glutaric acid due to peroxisomal glutaryl-CoA oxidase deficiency. There is no association with a specific clinical phenotype.","GARD_Name__c":"Glutaryl-CoA oxidase deficiency","GARD_Synonym__c":"ga iii; glutaric acidemia type 3; glutaric aciduria (disease) caused by mutation in sugct; glutaric aciduria iii; glutaric aciduria type 3; glutaryl-coenzyme a oxidase deficiency; sugct glutaric aciduria (disease); sugct-gene related glutaryl-coenzyme a oxidase deficiency","Curated_Disease_Description_Source__c":"GARD:0012469","Curated_Disease_Description__c":"Glutaric acidemia type III is a rare metabolic condition characterized by persistent, isolated accumulation or excretion of glutaric acid. No specific phenotype has been described, as symptoms vary and some individuals remain symptom-free. Unlike other types of glutaric acidemia, this type is caused by a peroxisomal rather than a mitochondrial dysfunction. Genetic changes in the C7ORF10 gene on chromosome 7p14 have been identified in some people with Glutaric acidemia type III and the condition follows an autosomal recessive pattern of inheritance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:35706","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009283","ORPHANET_ID__c":"ORPHA:35706","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Acidemia glutárica tipo 3","Spanish_Description_Source__c":"ORPHA:35706","Spanish_Description__c":"Es un error congénito del metabolismo poco frecuente caracterizado por una excreción urinaria anómalamente elevada de ácido glutárico debido a la deficiencia de glutaril-CoA oxidasa peroxisomal. No se ha asociado con un fenotipo clínico específico.","Spanish_Disease_Name__c":"acidemia glutárica tipo 3","Spanish_GARD_Synonym__c":"aciduria glutárica tipo 3; deficiencia de glutaril-coa oxidasa","Category_Linearization__c":"ORPHA:68367","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":"Glutaric acidemia type III is a rare metabolic condition characterized by persistent, isolated accumulation or excretion of glutaric acid. No specific phenotype has been described, as symptoms vary and some individuals remain symptom-free. Unlike other types of glutaric acidemia, this type is caused by a peroxisomal rather than a mitochondrial dysfunction. Genetic changes in the C7ORF10 gene on chromosome 7p14 have been identified in some people with Glutaric acidemia type III and the condition follows an autosomal recessive pattern of inheritance.","Curated_Disease_Description_Source__c":"GARD:0012469","GARD_Synonym__c":"ga iii; glutaric acidemia type 3; glutaric aciduria (disease) caused by mutation in sugct; glutaric aciduria iii; glutaric aciduria type 3; glutaryl-coenzyme a oxidase deficiency; sugct glutaric aciduria (disease); sugct-gene related glutaryl-coenzyme a oxidase deficiency","Name":"Glutaryl-CoA oxidase deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Organic Acidemia Association","Website__c":"https://oaanews.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":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:35706"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0342873"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012469","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=87464","Source__c":"C0342873","Xref__c":"MEDGEN:87464"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=238070003","Source__c":"C0342873; MONDO:0009283","Xref__c":"238070003"},{"URL__c":"https://www.omim.org/entry/231690","Source__c":"C0342873; MONDO:0009283; ORPHA:35706","Xref__c":"OMIM:231690"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112246","Source__c":"MONDO:0009283","Xref__c":"DOID:0112246"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562818","Source__c":"MONDO:0009283","Xref__c":"C562818"},{"URL__c":"https://www.orpha.net/en/disease/detail/35706","Source__c":"C0342873; MONDO:0009283; ORPHA:35706","Xref__c":"ORPHA:35706"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0342873","Source__c":"C0342873","Xref__c":"C0342873"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009283","Source__c":"GARD:0012469","Xref__c":"MONDO:0009283"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SUGCT","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:35706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002518","HPO_Synonym__c":"Abnormality of the periventricular white matter","HPO_Name__c":"Abnormal periventricular white matter morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001254","HPO_Synonym__c":"Dullness; Inaction; Inactivity; Languor; Lethargy; Slowness; Torpor","HPO_Name__c":"Lethargy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35706","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal concentration of an enzyme in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011021","HPO_Synonym__c":"Abnormality of circulating enzyme level","HPO_Name__c":"Abnormal circulating enzyme concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:35706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased concentration of glutaric acid in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003530","HPO_Synonym__c":"Glutarate acidemia; Glutaric acidemia","HPO_Name__c":"Elevated circulating glutaric acid concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:35706","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"The concentration of glutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003150","HPO_Synonym__c":"Glutarate aciduria; Glutaricaciduria; Increased glutarate level in urine","HPO_Name__c":"Glutaric aciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:35706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Acidosis resulting from accumulation of ketone bodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001993","HPO_Name__c":"Ketoacidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:35706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001328","HPO_Name__c":"Specific learning disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Acting on the spur of the moment or on a momentary basis without consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in behavior that is uninhibited, cannot be inhibited, and is uncontrolled. The possibility of repression is inconceivable.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100710","HPO_Synonym__c":"Impulsive; Impulsivity","HPO_Name__c":"Impulsivity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the cerebral white matter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002500","HPO_Synonym__c":"Abnormality of subcortical white matter; Abnormality of the cerebral white matter; Cerebral white matter abnormalities; Leukoaraiosis; White matter abnormalities; White matter alterations","HPO_Name__c":"Abnormal cerebral white matter morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002919","HPO_Synonym__c":"Ketonaciduria; Ketone bodies in urine","HPO_Name__c":"Ketonuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:35706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000960","HPO_Synonym__c":"Pilonidal dimple; Spinal dimple","HPO_Name__c":"Sacral dimple","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["ga iii"," glutaric acidemia type 3"," glutaric aciduria (disease) caused by mutation in sugct"," glutaric aciduria iii"," glutaric aciduria type 3"," glutaryl-coenzyme a oxidase deficiency"," sugct glutaric aciduria (disease)"," sugct-gene related glutaryl-coenzyme a oxidase deficiency"]}