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GTR Home > Conditions/Phenotypes > Deficiency of 2-methylbutyryl-CoA dehydrogenase

Deficiency of 2-methylbutyryl-CoA dehydrogenase

Synonyms
2-methylbutyric aciduria; 2-methylbutyryl-CoA dehydrogenase deficiency; 2-methylbutyrylglycinuria; Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency; SBCAD deficiency; Short branched-chain acyl-CoA dehydrogenase deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

2-Methylbutyryl-CoA dehydrogenase 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). [from OMIM]

Available tests

49 tests are in the database for this condition.

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Clinical tests (49 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 2-MEBCAD, ACAD7, SBCAD, ACADSB
    Summary: acyl-CoA dehydrogenase short/branched chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C5 Acylcarnitine, Isovaleric Acidemia, 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Isovaleric Acidemia: Increased C5 (isolated), 2022

Molecular resources

Consumer resources

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