{"Name":"Succinyl-CoA acetoacetate transferase deficiency","DiseaseID__c":"GARD:0004774","id":4774,"encodedName":"succinyl-coa-acetoacetate-transferase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Succinyl-CoA acetoacetate transferase deficiency","Xref_IDs__c":"238004006; C0342792; C537527; MEDGEN:137979; MONDO:0009492; OMIM:245050; ORPHA:832","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009492","Disease_Description__c":"A rare, genetic disorder in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.","GARD_Name__c":"Succinyl-CoA acetoacetate transferase deficiency","GARD_Synonym__c":"3-ketoacid coa transferase deficiency; 3-oxoacid coa transferase deficiency; ketoacidosis due to scot deficiency; oxct1 deficiency; scot deficiency; scotd; succinyl coa:3-oxoacid coa transferase deficiency; succinyl-coa 3-ketoacid transferase deficiency; succinyl-coa:3-ketoacid coa transferase deficiency; succinyl-coa:3-ketoacid coa-transferase deficiency; succinyl-coa:3-oxoacid coa transferase deficiency; succinyl-coenzyme a acetoacetate transferase deficiency; thioacyl transferase deficiency","Curated_Disease_Description_Source__c":"GARD:0004774","Curated_Disease_Description__c":"Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is an inherited disorder that impairs the body's ability to break down ketones, which are molecules produced in the liver during the breakdown of fats. The signs and symptoms of SCOT deficiency typically appear within the first few years of life. Affected individuals experience episodes of extreme tiredness (lethargy), appetite loss, vomiting, rapid breathing, and, occasionally, seizures. These episodes, which are called ketoacidotic attacks, sometimes lead to coma. About half of affected individuals have a ketoacidotic attack within the first 4 days of life. Affected individuals have no symptoms of the disorder between ketoacidotic attacks. People with SCOT deficiency usually have a permanently elevated level of ketones in their blood (persistent ketosis). If the level of ketones gets too high, which can be brought on by infections, fevers, or periods without food (fasting), a ketoacidotic attack can occur. The frequency of ketoacidotic attacks varies among affected individuals.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:832","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009492","ORPHANET_ID__c":"ORPHA:832","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de succinil-coa: 3 oxoácido coa transferasa","Spanish_Description_Source__c":"ORPHA:832","Spanish_Description__c":"Es un trastorno de origen genético y poco frecuente del metabolismo de los cuerpos cetónicos caracterizado por unos episodios intermitentes graves y potencialmente mortales de cetoacidosis","Spanish_Disease_Name__c":"deficiencia de succinil-coa: 3 oxoácido coa transferasa","Spanish_GARD_Synonym__c":"deficiencia de oxct1; deficiencia de scot; deficiencia de succinil-coa acetoacetato transferasa; deficiencia de succinil-coa:3-cetoácido-coa transferasa","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":"Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is an inherited disorder that impairs the body's ability to break down ketones, which are molecules produced in the liver during the breakdown of fats. The signs and symptoms of SCOT deficiency typically appear within the first few years of life. Affected individuals experience episodes of extreme tiredness (lethargy), appetite loss, vomiting, rapid breathing, and, occasionally, seizures. These episodes, which are called ketoacidotic attacks, sometimes lead to coma. About half of affected individuals have a ketoacidotic attack within the first 4 days of life. Affected individuals have no symptoms of the disorder between ketoacidotic attacks. People with SCOT deficiency usually have a permanently elevated level of ketones in their blood (persistent ketosis). If the level of ketones gets too high, which can be brought on by infections, fevers, or periods without food (fasting), a ketoacidotic attack can occur. The frequency of ketoacidotic attacks varies among affected individuals.","Curated_Disease_Description_Source__c":"GARD:0004774","GARD_Synonym__c":"3-ketoacid coa transferase deficiency; 3-oxoacid coa transferase deficiency; ketoacidosis due to scot deficiency; oxct1 deficiency; scot deficiency; scotd; succinyl coa:3-oxoacid coa transferase deficiency; succinyl-coa 3-ketoacid transferase deficiency; succinyl-coa:3-ketoacid coa transferase deficiency; succinyl-coa:3-ketoacid coa-transferase deficiency; succinyl-coa:3-oxoacid coa transferase deficiency; succinyl-coenzyme a acetoacetate transferase deficiency; thioacyl transferase deficiency","Name":"Succinyl-CoA acetoacetate transferase deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:832"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:832"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004774","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0342792","Source__c":"C0342792","Xref__c":"C0342792"},{"URL__c":"https://www.omim.org/entry/245050","Source__c":"C0342792; MONDO:0009492; ORPHA:832","Xref__c":"OMIM:245050"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537527","Source__c":"MONDO:0009492","Xref__c":"C537527"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=238004006","Source__c":"C0342792; MONDO:0009492","Xref__c":"238004006"},{"URL__c":"https://www.orpha.net/en/disease/detail/832","Source__c":"C0342792; MONDO:0009492; ORPHA:832","Xref__c":"ORPHA:832"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=137979","Source__c":"C0342792","Xref__c":"MEDGEN:137979"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009492","Source__c":"GARD:0004774","Xref__c":"MONDO:0009492"},{"URL__c":"https://medlineplus.gov/genetics/condition/succinyl-coa3-ketoacid-coa-transferase-deficiency","Source__c":"GARD:0004774","Xref__c":"https://medlineplus.gov/genetics/condition/succinyl-coa3-ketoacid-coa-transferase-deficiency"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"OXCT1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/oxct1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:832","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Very rapid breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002789","HPO_Synonym__c":"Increased respiratory rate or depth of breathing; Polypnea","HPO_Name__c":"Tachypnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:832","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Activity of succinyl-CoA:3-oxoacid-CoA transferase (SCOT, or OXCT1; EC 2.8.3.5) below the lower limit of normal in cultured fibroblasts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000361","HPO_Name__c":"Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:832","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:832","HPO_Frequency__c":"Frequent (30-79%)","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:832","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001944","HPO_Synonym__c":"Dehydration; Exsiccosis","HPO_Name__c":"Dehydration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:832","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:832","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A sensation of unease in the stomach together with an urge to vomit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002018","HPO_Synonym__c":"Nausea","HPO_Name__c":"Nausea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:832","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001259","HPO_Synonym__c":"Coma; Persistent vegetative state; Stupor; Unconsciousness","HPO_Name__c":"Coma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:832","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:832","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001531","HPO_Synonym__c":"Failure to thrive in first year of life; Faltering weight in infancy; Weight faltering in infancy","HPO_Name__c":"Failure to thrive in infancy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:832","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410175","HPO_Synonym__c":"Elevated circulating ketone body concentration; Increased level of ketone bodies in blood; Ketonemia","HPO_Name__c":"Hyperketonemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:832","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001640","HPO_Synonym__c":"Enlarged heart; Increased heart size","HPO_Name__c":"Cardiomegaly","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:832","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally low body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004325","HPO_Synonym__c":"Decreased body weight; Decreased weight; Low body weight; Low weight; Weight less than 3rd percentile","HPO_Name__c":"Decreased body weight","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:832","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["3-ketoacid coa transferase deficiency"," 3-oxoacid coa transferase deficiency"," ketoacidosis due to scot deficiency"," oxct1 deficiency"," scot deficiency"," scotd"," succinyl coa:3-oxoacid coa transferase deficiency"," succinyl-coa 3-ketoacid transferase deficiency"," succinyl-coa:3-ketoacid coa transferase deficiency"," succinyl-coa:3-ketoacid coa-transferase deficiency"," succinyl-coa:3-oxoacid coa transferase deficiency"," succinyl-coenzyme a acetoacetate transferase deficiency"," thioacyl transferase deficiency"]}