{"Name":"Deficiency of 2-methylbutyryl-CoA dehydrogenase","DiseaseID__c":"GARD:0010322","id":10322,"encodedName":"deficiency-of-2-methylbutyryl-coa-dehydrogenase","IsDeleted":false,"Disease_Name_Full__c":"Deficiency of 2-methylbutyryl-CoA dehydrogenase","Xref_IDs__c":"444838008; C1864912; C566487; C98863; MEDGEN:355324; MONDO:0012392; OMIM:610006; ORPHA:79157","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012392","Disease_Description__c":"A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.","GARD_Name__c":"Deficiency of 2-methylbutyryl-CoA dehydrogenase","GARD_Synonym__c":"2-methylbutyric aciduria; 2-methylbutyryl glycinuria; 2-methylbutyryl-coa dehydrogenase deficiency; 2-methylbutyryl-coenzyme a dehydrogenase deficiency disease; 2-methylbutyrylglycinuria; acadsb; acadsb-gene related deficiency of 2-methylbutyryl-coenzyme a dehydrogenase; acyl-coa dehydrogenase, short/branched chain deficiency; butyryl-coa dehydrogenase deficiency; deficiency of 2-methylbutyryl-coenzyme a dehydrogenase; developmental delay due to 2-methylbutyryl-coa dehydrogenase deficiency; sbcad deficiency; short branched-chain acyl-coa dehydrogenase deficiency; short/branched-chain acyl-coa dehydrogenase deficiency; short/branched-chain acyl-coa dehydrogenase deficiency disease","Curated_Disease_Description_Source__c":"GARD:0010322","Curated_Disease_Description__c":"Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency (also known as 2-methylbutyryl-CoA dehydrogenase deficiency) is a rare disorder in which the body is unable to process proteins properly. Normally, the body breaks down proteins from food into smaller parts called amino acids. Amino acids can be further processed to provide energy for the body. People with SBCAD deficiency cannot process a particular amino acid called isoleucine. Most cases of SBCAD deficiency are detected shortly after birth by newborn screening, which identifies abnormal levels of certain compounds in the blood. In individuals with this condition, a compound called 2-methylbutyryl carnitine is elevated in the blood and another called 2-methylbutyrylglycine is elevated in the urine (2-methylbutyrylglycinuria). Most people with SBCAD deficiency have no health problems related to the disorder. A small percentage of affected individuals develop signs and symptoms of the condition, which can begin soon after birth or later in childhood. The initial symptoms often include poor feeding, lack of energy (lethargy), vomiting, and irritability. These symptoms sometimes progress to serious health problems such as difficulty breathing, seizures, and coma. Additional problems can include poor growth, vision impairment, learning disabilities, muscle weakness, and delays in motor skills such as standing and walking. It is unclear why some people with SBCAD deficiency develop health problems and others do not. Doctors suggest that in some cases, signs and symptoms may be triggered by infections, prolonged periods without food (fasting), or an increased amount of protein-rich foods in the diet.","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:79157","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012392","ORPHANET_ID__c":"ORPHA:79157","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de 2-metilbutiril-coa deshidrogenasa","Spanish_Description_Source__c":"ORPHA:79157","Spanish_Description__c":"Es una aciduria orgánica poco frecuente caracterizada por una alteración de la degradación de la isoleucina con niveles elevados de acilcarnitina C5 en plasma o en sangre total (que se observa típicamente en el cribado neonatal) y aumento de la excreción urinaria de N-metilbutirilglicina. Por lo general, el trastorno es clínicamente asintomático, aunque se han descrito pacientes con hipotonía muscular, retraso psicomotor y crisis epilépticas (entre otros).","Spanish_Disease_Name__c":"deficiencia de 2-metilbutiril-coa deshidrogenasa","Spanish_GARD_Synonym__c":"aciduria 2-metilbutírica; deficiencia de acil-coa deshidrogenasa de cadena corta/ramificada; deficiencia de sbcad; retraso del desarrollo por deficiencia de 2-metilbutiril-coa-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":"Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency (also known as 2-methylbutyryl-CoA dehydrogenase deficiency) is a rare disorder in which the body is unable to process proteins properly. Normally, the body breaks down proteins from food into smaller parts called amino acids. Amino acids can be further processed to provide energy for the body. People with SBCAD deficiency cannot process a particular amino acid called isoleucine. Most cases of SBCAD deficiency are detected shortly after birth by newborn screening, which identifies abnormal levels of certain compounds in the blood. In individuals with this condition, a compound called 2-methylbutyryl carnitine is elevated in the blood and another called 2-methylbutyrylglycine is elevated in the urine (2-methylbutyrylglycinuria). Most people with SBCAD deficiency have no health problems related to the disorder. A small percentage of affected individuals develop signs and symptoms of the condition, which can begin soon after birth or later in childhood. The initial symptoms often include poor feeding, lack of energy (lethargy), vomiting, and irritability. These symptoms sometimes progress to serious health problems such as difficulty breathing, seizures, and coma. Additional problems can include poor growth, vision impairment, learning disabilities, muscle weakness, and delays in motor skills such as standing and walking. It is unclear why some people with SBCAD deficiency develop health problems and others do not. Doctors suggest that in some cases, signs and symptoms may be triggered by infections, prolonged periods without food (fasting), or an increased amount of protein-rich foods in the diet.","Curated_Disease_Description_Source__c":"GARD:0010322","GARD_Synonym__c":"2-methylbutyric aciduria; 2-methylbutyryl glycinuria; 2-methylbutyryl-coa dehydrogenase deficiency; 2-methylbutyryl-coenzyme a dehydrogenase deficiency disease; 2-methylbutyrylglycinuria; acadsb; acadsb-gene related deficiency of 2-methylbutyryl-coenzyme a dehydrogenase; acyl-coa dehydrogenase, short/branched chain deficiency; butyryl-coa dehydrogenase deficiency; deficiency of 2-methylbutyryl-coenzyme a dehydrogenase; developmental delay due to 2-methylbutyryl-coa dehydrogenase deficiency; sbcad deficiency; short branched-chain acyl-coa dehydrogenase deficiency; short/branched-chain acyl-coa dehydrogenase deficiency; short/branched-chain acyl-coa dehydrogenase deficiency disease","Name":"Deficiency of 2-methylbutyryl-CoA dehydrogenase","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"},{"Account_Name__c":"Save Babies Through Screening Foundation, Inc","Website__c":"https://savebabies.org/"},{"Account_Name__c":"FOD (Fatty Oxidation Disorder) Family Support Group","Website__c":"https://fodsupport.org/"},{"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":"Neonatal","Provided_By__c":"ORPHA:79157"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79157"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Secondary","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/2MBG"},{"Type__c":"GTR","Curie__c":"MEDGEN:C1864912"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010322","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/610006","Source__c":"C1864912; MONDO:0012392; ORPHA:79157","Xref__c":"OMIM:610006"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98863","Source__c":"MONDO:0012392","Xref__c":"C98863"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=355324","Source__c":"C1864912","Xref__c":"MEDGEN:355324"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1864912","Source__c":"C1864912","Xref__c":"C1864912"},{"URL__c":"https://www.orpha.net/en/disease/detail/79157","Source__c":"C1864912; MONDO:0012392; ORPHA:79157","Xref__c":"ORPHA:79157"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566487","Source__c":"MONDO:0012392","Xref__c":"C566487"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=444838008","Source__c":"C1864912","Xref__c":"444838008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012392","Source__c":"GARD:0010322","Xref__c":"MONDO:0012392"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0020147","Source__c":"C1864912","Xref__c":"HP:0020147"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1306751004","Source__c":"C1864912","Xref__c":"1306751004"},{"URL__c":"https://medlineplus.gov/genetics/condition/short-branched-chain-acyl-coa-dehydrogenase-deficiency","Source__c":"GARD:0010322","Xref__c":"https://medlineplus.gov/genetics/condition/short-branched-chain-acyl-coa-dehydrogenase-deficiency"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ACADSB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/acadsb","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79157","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:79157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79157","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:79157","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79157","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of 2-ethylhydracylic acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033220","HPO_Synonym__c":"Elevated urinary 2-ethylhydracylic acid; Elevated urinary 2-methylbutyrylglycine","HPO_Name__c":"2-ethylhydracylic aciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79157","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Concentration of C5 acylcarnitines in the blood circulation above the upper limit of normal. C5 acylcarnitines have a five-carbon acyl chain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0035019","HPO_Name__c":"Elevated circulating C5 acylcarnitine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79157","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:79157","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000717","HPO_Synonym__c":"Autism","HPO_Name__c":"Autism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79157","HPO_Frequency__c":"Uncommon (<1-4%)","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["2-methylbutyric aciduria"," 2-methylbutyryl glycinuria"," 2-methylbutyryl-coa dehydrogenase deficiency"," 2-methylbutyryl-coenzyme a dehydrogenase deficiency disease"," 2-methylbutyrylglycinuria"," acadsb"," acadsb-gene related deficiency of 2-methylbutyryl-coenzyme a dehydrogenase"," acyl-coa dehydrogenase, short/branched chain deficiency"," butyryl-coa dehydrogenase deficiency"," deficiency of 2-methylbutyryl-coenzyme a dehydrogenase"," developmental delay due to 2-methylbutyryl-coa dehydrogenase deficiency"," sbcad deficiency"," short branched-chain acyl-coa dehydrogenase deficiency"," short/branched-chain acyl-coa dehydrogenase deficiency"," short/branched-chain acyl-coa dehydrogenase deficiency disease"]}