Details of Disease | DrugMAP

General Information of Disease (ID: DISVIOPK)

Disease Name	2-methylbutyryl-CoA dehydrogenase deficiency
Synonyms	short branched-chain acyl-CoA dehydrogenase deficiency; 2-methylbutyryl Glycinuria; short/branched-chain acyl-Coa dehydrogenase deficiency; 2-methylbutyryl-CoA dehydrogenase deficiency; SBCAD deficiency; 2-methylbutyric aciduria; butyryl-CoA dehydrogenase deficiency; developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency; 2-methylbutyrylglycinuria; short/branched-chain acyl-coA dehydrogenase deficiency
Definition	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.
Disease Hierarchy	DISCXXVK: Classic organic aciduria DISVIOPK: 2-methylbutyryl-CoA dehydrogenase deficiency
Disease Identifiers	MONDO ID MONDO_0012392 MESH ID C566487 UMLS CUI C1864912 OMIM ID 610006 MedGen ID 355324 HPO ID HP:0020147 Orphanet ID 79157 SNOMED CT ID 444838008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACADSB	OTDO6HBG	Definitive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.