SBCADD is included as a secondary target condition in most newborn screening programs, as the key analyte is the same as is used to identify isovaleric acidemia.

[5] There are isolated case reports where individuals have been identified with SBCADD in addition to developmental delay and epilepsy.

There is some concern that these cases with additional symptoms may reflect an ascertainment bias rather than being a true representation of the clinical spectrum of the disease.

[5] The disorder is caused by a mutation in the ACADSB gene, located on the long arm of human chromosome 10 (10q25-q26).

[1] Confirmatory testing includes plasma and urine analysis to identify the carnitine and glycine conjugates of 2-methylbutyryl-CoA.