2-methylbutyryl-CoA dehydrogenase deficiency
Findings
No curated finding names 2-methylbutyryl-CoA dehydrogenase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0012392), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- 2-ethylhydracylic aciduriaHPOHP:0033220
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Generalized amyotrophyHPOHP:0003700
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Elevated circulating C5 acylcarnitine concentrationHPOHP:0035019
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ACADSBHGNC:91
- Definitive · ClinGen · Autosomal recessive · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
6 names
Resolves to: 2-methylbutyryl-CoA dehydrogenase deficiency
- Also called
- 2-methylbutyric aciduria2-methylbutyrylglycinuriabutyryl-CoA dehydrogenase deficiencydevelopmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiencySBCAD deficiencyshort/branched-chain acyl-coA dehydrogenase deficiency