{"Name":"Oxoglutaricaciduria","DiseaseID__c":"GARD:0000617","id":617,"encodedName":"oxoglutaricaciduria","IsDeleted":false,"Disease_Name_Full__c":"Oxoglutaricaciduria","Xref_IDs__c":"733630004; C2752074; C536582; DOID:0081326; MEDGEN:414553; MONDO:0008759; OMIM:203740; ORPHA:31","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008759","Disease_Description__c":"A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures.","GARD_Name__c":"Oxoglutaricaciduria","GARD_Synonym__c":"alpha-ketoglutarate dehydrogenase deficiency; deficiency of alpha-ketoglutarate dehydrogenase; oxoglutarate dehydrogenase deficiency; oxoglutaric aciduria","Curated_Disease_Description_Source__c":"MONDO:0008759","Curated_Disease_Description__c":"A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:31","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008759","ORPHANET_ID__c":"ORPHA:31","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aciduria oxoglutárica","Spanish_Description_Source__c":"ORPHA:31","Spanish_Description__c":"Es un error innato del metabolismo, de origen genético y poco frecuente, caracterizado por un inicio neonatal de retraso del desarrollo, hipotonía, hepatomegalia, acidosis láctica, incremento de los niveles de creatinquinasa, niveles elevados de alfa-cetoglutarato en orina y disminución del cociente beta-hidroxibutirato / acetoacetato en plasma. También puede asociar deficiencia de piruvato deshidrogenasa, que conduce a hipoglucemia y anomalías neurológicas tales como convulsiones.","Spanish_Disease_Name__c":"aciduria oxoglutárica","Spanish_GARD_Synonym__c":"deficiencia de alfa-cetoglutarato deshidrogenasa","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":"A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures.","Curated_Disease_Description_Source__c":"MONDO:0008759","GARD_Synonym__c":"alpha-ketoglutarate dehydrogenase deficiency; deficiency of alpha-ketoglutarate dehydrogenase; oxoglutarate dehydrogenase deficiency; oxoglutaric aciduria","Name":"Oxoglutaricaciduria","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.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"},{"Tag_Name__c":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:31"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2752074"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000617","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=414553","Source__c":"C2752074","Xref__c":"MEDGEN:414553"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536582","Source__c":"MONDO:0008759","Xref__c":"C536582"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733630004","Source__c":"C2752074; MONDO:0008759","Xref__c":"733630004"},{"URL__c":"https://www.omim.org/entry/203740","Source__c":"C2752074; MONDO:0008759; ORPHA:31","Xref__c":"OMIM:203740"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081326","Source__c":"MONDO:0008759","Xref__c":"DOID:0081326"},{"URL__c":"https://www.orpha.net/en/disease/detail/31","Source__c":"C2752074; MONDO:0008759; ORPHA:31","Xref__c":"ORPHA:31"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2752074","Source__c":"C2752074","Xref__c":"C2752074"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008759","Source__c":"GARD:0000617","Xref__c":"MONDO:0008759"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"OGDH","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:31","HPO_Frequency__c":"Very frequent (80-99%)","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:31","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain","HPO_Name__c":"Hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A deviation from normal of the concentration of 2-oxoglutaric acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012401","HPO_Synonym__c":"Abnormal urinary 2-oxoglutarate level; Abnormality of urine alpha ketoglutarate concentration","HPO_Name__c":"Abnormal urine alpha-ketoglutarate concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:31","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the salivary glands, the exocrine glands that produce saliva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010286","HPO_Synonym__c":"Abnormality of the salivary glands","HPO_Name__c":"Abnormal salivary gland morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100022","HPO_Synonym__c":"Abnormality of movement; Movement disorder; Unusual movement","HPO_Name__c":"Abnormality of movement","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001276","HPO_Synonym__c":"Hypertonicity; Increased muscle tone","HPO_Name__c":"Hypertonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the tricarboxylic acid cycle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000816","HPO_Synonym__c":"Abnormality of citric acid cycle; Abnormality of the tricarboxylic cycle","HPO_Name__c":"Abnormality of Krebs cycle metabolism","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:31","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Neurology","Epilepsy","Neuromuscular medicine","Pediatrics"],"Account":["Mitochondrial","Peripheral Neuropathy","Epilepsy"]},"synonyms":["alpha-ketoglutarate dehydrogenase deficiency"," deficiency of alpha-ketoglutarate dehydrogenase"," oxoglutarate dehydrogenase deficiency"," oxoglutaric aciduria"]}