The disorder may be detected by MS/MS-based routine newborn screening due to the heightened presence of 2-methylbutyrylcarnitine in tissue samples.

[10] While many individuals with a mutation in this gene may be asymptomatic, some patients have been reported to have symptoms in early infancy.

Infants may experience apneic episodes, generalized muscle atrophy, hypotonia, lethargy, seizures, and delayed motor development.

[14] Finally, genetic polymorphisms of the ACADSB gene may also be involved in the development of hypertension in the Japanese population.

[15] This article incorporates text from the United States National Library of Medicine, which is in the public domain.