Butyryl-CoA Dehydrogenase Deficiency

Preferred Label : Butyryl-CoA Dehydrogenase Deficiency;

NCIt synonyms : 2-Methylbutyryl-CoA Dehydrogenase Deficiency;

NCIt definition : A rare autosomal recessive inherited disorder caused by mutations in the ACADSB gene. It is characterized by deficiency of the enzyme 2-methylbutyryl-CoA dehydrogenase which is involved in the metabolism of isoleucine. Signs and symptoms include vomiting, lethargy, irritable mood, and developmental delays. It may also lead to breathing difficulties, seizures, and coma.;

Details

Origin ID

C98863;

UMLS CUI

C0342783;

Automatic exact mappings (from CISMeF team)
- Deficiency of butyryl-CoA dehydrogenase (disorder) [SNOMED CT concept]
- Short chain acyl-CoA dehydrogenase deficiency [ICD-11 More detail]
- short chain acyl CoA dehydrogenase deficiency [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- 2 methylbutyryl CoA dehydrogenase deficiency [Disease (Nov.)]
- 2-Methylbutyryl-Coa dehydrogenase deficiency [MeSH concept]
- 2-Methylbutyryl-Coa dehydrogenase deficiency [MeSH Supplementary Concept]
- 2-methylbutyric aciduria [ICD-11 More detail]
- 2-methylbutyryl-CoA dehydrogenase deficiency [ORDO Disease]
- 2-methylbutyryl-coa dehydrogenase deficiency [OMIM Phenotype]
- Deficiency of 2-methylbutyryl-coenzyme A dehydrogenase (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acyl-coa dehydrogenase, short-chain, deficiency of [OMIM Phenotype]
- Deficiency of butyryl-CoA dehydrogenase (disorder) [SNOMED CT concept]
- SCAD deficiency [MedDRA LLT]
- Short chain Acyl CoA dehydrogenase deficiency [MeSH concept]
- Short chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
- Short chain acyl-CoA dehydrogenase deficiency [ICD-11 More detail]
- Short chain acyl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Short-chain acyl-CoA dehydrogenase deficiency [LOINC component]
- Short-chain acyl-coenzyme A dehydrogenase deficiency [MedDRA Preferred Term]
- short chain acyl CoA dehydrogenase deficiency [MeSH Supplementary Concept]
- short chain acyl CoA dehydrogenase deficiency [Disease (Nov.)]
- short chain acyl-CoA dehydrogenase deficiency [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_mapped_to_gene
- ACADSB Gene [NCIt concept]

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