2-methylbutyryl-coa dehydrogenase deficiency

Preferred Label : 2-methylbutyryl-coa dehydrogenase deficiency;

CISMeF acronym : SBCADD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SBCADD; 2-methylbutyryl glycinuria; Short/branched-chain acyl-coa dehydrogenase deficiency;

Description : 2-Methylbutyryl-CoA dehydrogenase (MBD) deficiency is an autosomal recessive metabolic disorder of impaired isoleucine degradation. It is most often ascertained via newborn screening and is usually clinically asymptomatic, although some patients have been reported to have delayed development and neurologic signs. Therefore, the clinical relevance of the deficiency is unclear (Sass et al.., 2008).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the short/branched-chain acyl-CoA dehydrogenase gene (ACADSB, 600301.0001);

Laboratory abnormalities : Increased urinary 2-methylbutyrylglycine; Increased plasma 2-methylbutyrylcarnitine; Decreased short/branched-chain acyl-CoA dehydrogenase protein levels and enzyme activity;

Prefixed ID : #610006;

Details

Origin ID

610006;

UMLS CUI

C1864912;

Automatic exact mappings (from CISMeF team)
- 2-Methylbutyryl glycinuria [HPO term]
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]
- Butyryl-CoA Dehydrogenase Deficiency [NCIt concept]
- Deficiency of 2-methylbutyryl-coenzyme A dehydrogenase (disorder) [SNOMED CT concept]
Genes related to phenotype
- Acyl-coa dehydrogenase, short/branched chain [OMIM gene]
HPO term(s)
- Apneic episodes in infancy [HPO term]
- Autosomal recessive inheritance [HPO term]
- Exotropia [HPO term]
- Generalized amyotrophy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypoglycemia [HPO term]
- Hypothermia [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Lethargy [HPO term]
- Microcephaly [HPO term]
- Motor delay [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- 2-methylbutyryl-CoA dehydrogenase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 2-Methylbutyryl glycinuria [HPO term]
- 2-Methylbutyryl-Coa dehydrogenase deficiency [MeSH Supplementary Concept]
- 2-Methylbutyryl-Coa dehydrogenase deficiency [MeSH concept]
- 2-methylbutyryl-CoA dehydrogenase deficiency [ORDO Disease]
- Deficiency of 2-methylbutyryl-coenzyme A dehydrogenase (disorder) [SNOMED CT concept]

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