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2-methylbutyryl-CoA dehydrogenase deficiency
Disease 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.
ORPHA:79157
Classification level: Disorder- Synonym(s):
- 2-methylbutyric aciduria
- Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency
- SBCAD deficiency
- Short/branched-chain acyl-coA dehydrogenase deficiency
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: E71.1
- OMIM: 610006
- UMLS: C1864912
- MeSH: -
- GARD: 10322
- MedDRA: -
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