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2-methylbutyryl-CoA dehydrogenase deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0012392

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. [ Orphanet:79157 ]

Synonyms: short/branched-chain acyl-coA dehydrogenase deficiency SBCAD deficiency 2-methylbutyryl-CoA dehydrogenase deficiency 2-methylbutyrylglycinuria butyryl-CoA dehydrogenase deficiency 2-methylbutyric aciduria developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C566487 (MONDO:equivalentTo)
  • UMLS:C1864912 (Orphanet:79157/e)
  • NCIT:C98863 (MONDO:equivalentTo)
  • Orphanet:79157 (OMIM:610006)
  • OMIM:610006 (Orphanet:79157/e)
  • GARD:10322 (Orphanet:79157)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985

https://github.com/monarch-initiative/mondo/issues/4521

exactMatch

http://linkedlifedata.com/resource/umls/id/C1864912

https://omim.org/entry/610006

http://identifiers.org/mesh/C566487

http://purl.obolibrary.org/obo/NCIT_C98863

http://www.orpha.net/ORDO/Orphanet_79157

has related synonym

short branched-chain acyl-CoA dehydrogenase deficiency

2-methylbutyryl Glycinuria

short/branched-chain acyl-Coa dehydrogenase deficiency

id

MONDO:0012392

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0012392

https://rarediseases.info.nih.gov/diseases/10322/2-methylbutyryl-coa-dehydrogenase-deficiency

Term relations