{"Name":"Deficiency of isobutyryl-CoA dehydrogenase","DiseaseID__c":"GARD:0010223","id":10223,"encodedName":"deficiency-of-isobutyryl-coa-dehydrogenase","IsDeleted":false,"Disease_Name_Full__c":"Deficiency of isobutyryl-CoA dehydrogenase","Xref_IDs__c":"445274004; C129975; C1969809; C535541; MEDGEN:370754; MONDO:0012648; OMIM:611283; ORPHA:79159","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012648","Disease_Description__c":"Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the <i>ACAD8</i> gene (11q25).","GARD_Name__c":"Deficiency of isobutyryl-CoA dehydrogenase","GARD_Synonym__c":"acad8 deficiency; acad8-gene related deficiency of isobutyryl-coenzyme a dehydrogenase; acyl-coa dehydrogenase family, member 8, deficiency of; deficiency of isobutyryl-coenzyme a dehydrogenase; ibd deficiency; isobutyric aciduria; isobutyryl-coa dehydrogenase deficiency; isobutyryl-coa dehydrogenase deficiency disease; isobutyryl-coenzyme a dehydrogenase deficiency disease","Curated_Disease_Description_Source__c":"GARD:0010223","Curated_Disease_Description__c":"Isobutyryl-CoA dehydrogenase (IBD) deficiency is a condition that disrupts the breakdown of certain proteins. Normally, proteins from food are broken down into amino acids. Amino acids can be further processed to provide energy for growth and development. People with IBD deficiency have problems breaking down the amino acid valine. Most people with IBD deficiency are asymptomatic, which means that they do not have any signs or symptoms of the condition. If signs or symptoms do appear, they typically show early in life and only last for a short period of time. These signs and symptoms can include weak muscle tone (hypotonia), developmental delays, slow growth, a low number of red blood cells (anemia), and seizures. Because IBD deficiency is rare and often does not cause signs and symptoms, it is difficult to know if the health problems seen in affected individuals are caused by this condition or if those health problems are unrelated to the condition. It is also unclear whether IBD deficiency causes health problems later in life. Newborn screening, which identifies abnormal levels of certain compounds in the blood, can detect IBD deficiency. People with IBD deficiency have high levels of a compound called carnitine (specifically a form called C4-acylcarnitine). Cells use carnitine, a natural substance that is acquired mostly through the diet, to process fats and produce energy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:79159","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012648","ORPHANET_ID__c":"ORPHA:79159","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de isobutiril-coa-deshidrogenasa","Spanish_Description_Source__c":"ORPHA:79159","Spanish_Description__c":"El déficit de isobutiril-CoA deshidrogenasa es un fallo innato del metabolismo de la valina. La prevalencia es desconocida. Hasta la fecha sólo se ha descrito un paciente sintomático (con anemia, retraso del crecimiento, miocardiopatía dilatada y déficit de carnitina en plasma), pero se han identificado varias series de pacientes a través de programas de cribado neonatal basados en la detección de un aumento de los niveles de C(4)-carnitina por espectrometría de masas en tándem. El trastorno está causado por mutaciones en el gen <i>ACAD8</i> (11q25).","Spanish_Disease_Name__c":"deficiencia de isobutiril-coa-deshidrogenasa","Spanish_GARD_Synonym__c":"aciduria isobutírica","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":"Isobutyryl-CoA dehydrogenase (IBD) deficiency is a condition that disrupts the breakdown of certain proteins. Normally, proteins from food are broken down into amino acids. Amino acids can be further processed to provide energy for growth and development. People with IBD deficiency have problems breaking down the amino acid valine. Most people with IBD deficiency are asymptomatic, which means that they do not have any signs or symptoms of the condition. If signs or symptoms do appear, they typically show early in life and only last for a short period of time. These signs and symptoms can include weak muscle tone (hypotonia), developmental delays, slow growth, a low number of red blood cells (anemia), and seizures. Because IBD deficiency is rare and often does not cause signs and symptoms, it is difficult to know if the health problems seen in affected individuals are caused by this condition or if those health problems are unrelated to the condition. It is also unclear whether IBD deficiency causes health problems later in life. Newborn screening, which identifies abnormal levels of certain compounds in the blood, can detect IBD deficiency. People with IBD deficiency have high levels of a compound called carnitine (specifically a form called C4-acylcarnitine). Cells use carnitine, a natural substance that is acquired mostly through the diet, to process fats and produce energy.","Curated_Disease_Description_Source__c":"GARD:0010223","GARD_Synonym__c":"acad8 deficiency; acad8-gene related deficiency of isobutyryl-coenzyme a dehydrogenase; acyl-coa dehydrogenase family, member 8, deficiency of; deficiency of isobutyryl-coenzyme a dehydrogenase; ibd deficiency; isobutyric aciduria; isobutyryl-coa dehydrogenase deficiency; isobutyryl-coa dehydrogenase deficiency disease; isobutyryl-coenzyme a dehydrogenase deficiency disease","Name":"Deficiency of isobutyryl-CoA dehydrogenase","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"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":"Cardiology","Tag_Category__c":"Specialist"},{"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":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79159"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79159"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Secondary","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/IBG"},{"Type__c":"GTR","Curie__c":"MEDGEN:C1969809"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010223","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1969809","Source__c":"C1969809","Xref__c":"C1969809"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535541","Source__c":"MONDO:0012648","Xref__c":"C535541"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=370754","Source__c":"C1969809","Xref__c":"MEDGEN:370754"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C129975","Source__c":"C1969809; MONDO:0012648","Xref__c":"C129975"},{"URL__c":"https://www.omim.org/entry/611283","Source__c":"C1969809; MONDO:0012648; ORPHA:79159","Xref__c":"OMIM:611283"},{"URL__c":"https://www.orpha.net/en/disease/detail/79159","Source__c":"C1969809; MONDO:0012648; ORPHA:79159","Xref__c":"ORPHA:79159"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1306747001","Source__c":"C1969809","Xref__c":"1306747001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012648","Source__c":"GARD:0010223","Xref__c":"MONDO:0012648"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=445274004","Source__c":"C1969809","Xref__c":"445274004"},{"URL__c":"https://medlineplus.gov/genetics/condition/isobutyryl-coa-dehydrogenase-deficiency","Source__c":"GARD:0010223","Xref__c":"https://medlineplus.gov/genetics/condition/isobutyryl-coa-dehydrogenase-deficiency"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ACAD8","GHR_URL__c":"https://medlineplus.gov/genetics/gene/acad8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79159","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A degree of language development that is significantly below the norm for a child of a specified age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000750","HPO_Synonym__c":"Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay","HPO_Name__c":"Delayed speech and language development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79159","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Low blood glucose is accompanied by elevated levels of ketone bodies in the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012734","HPO_Synonym__c":"Ketotic low blood sugar","HPO_Name__c":"Ketotic hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79159","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001642","HPO_Synonym__c":"Narrowing of pulmonic valve; Pulmonary stenosis; Pulmonary valve stenosis; Pulmonic valve stenosis","HPO_Name__c":"Pulmonic stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79159","HPO_Frequency__c":"Occasional (5-29%)","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:79159","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:79159","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001644","HPO_Synonym__c":"Cardiomyopathy, dilated; Congestive cardiomyopathy; DCM; Stretched and thinned heart muscle","HPO_Name__c":"Dilated cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79159","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:79159","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of dicarboxylic acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003215","HPO_Synonym__c":"Elevated urinary dicarboxylic acid level","HPO_Name__c":"Dicarboxylic aciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79159","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A mild delay in the achievement of motor or mental milestones in the domains of development of a child.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011342","HPO_Synonym__c":"Global developmental delay, mild","HPO_Name__c":"Mild global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79159","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Concentration of carnitine in the blood circulation below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003234","HPO_Synonym__c":"Decreased plasma carnitine","HPO_Name__c":"Decreased circulating carnitine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79159","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Concentration of acylcarnitine in the blood circulation above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045045","HPO_Synonym__c":"Elevated plasma acylcarnitine levels","HPO_Name__c":"Elevated circulating acylcarnitine concentration","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Cardiology","Pediatrics"],"Account":["Cardiomyopathy"]},"synonyms":["acad8 deficiency"," acad8-gene related deficiency of isobutyryl-coenzyme a dehydrogenase"," acyl-coa dehydrogenase family, member 8, deficiency of"," deficiency of isobutyryl-coenzyme a dehydrogenase"," ibd deficiency"," isobutyric aciduria"," isobutyryl-coa dehydrogenase deficiency"," isobutyryl-coa dehydrogenase deficiency disease"," isobutyryl-coenzyme a dehydrogenase deficiency disease"],"spanishId":12191,"spanishName":"deficiencia-de-isobutiril-coa-deshidrogenasa"}