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Short/Branched Chain Acyl-CoA Dehydrogenase (SBCAD) Deficiency
ACADSB gene
Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency is a rare autosomal recessive disorder of isoleucine metabolism. The clinical spectrum of this disorder has not been clearly defined as few patients with SBCAD deficiency have been described. Only seven symptomatic patients have been reported. Three presented with acute crisis in the newborn period including lethargy, poor feeding, apnea, hypothermia, hypoglycemia, EEG and MRI abnormalities, convulsions, lactic acidosis, respiratory distress, seizures, sepsis, disseminated intravascular coagulation and cerebral hemorrhage. The other four symptomatic patients presented after the neonatal period with symptoms that include hypotonia, motor delay, strabismus, apnea, infantile spasms, developmental delay, attention deficit hyperactivity disorder, recurrent vomiting and failure to thrive. A mother of one of the affected patients was also diagnosed with SBCAD deficiency but is healthy. Other patients have been diagnosed following positive newborn screening result for C5 elevation or were identified after the diagnosis of SBCAD in a sibling. These individuals have remained healthy, most with little or no treatment. There have been only a few small studies of patients with SBCAD deficiency. In 4 of these studies, two ACADSB mutations were identified in all of the patients. In a fifth report of 4 patients, two ACADSB mutations were identified in 3 patients, while no disease-associated mutations were identified in the fourth patient.
Using genomic DNA, bi-directional sequence of the coding region and splice junctions of the ACADSB gene is analyzed. If sequencing identifies a mutation on only one allele of the ACADSB gene, and if clinically indicated, reflex deletion/duplication testing (ExonArrayDx) will be performed at no additional charge to evaluate for a deletion/duplication of one or more exons of this gene. Carrier testing and prenatal diagnosis is available once the mutation in the family has been defined.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
2-methylbutyryl-CoA dehydrogenase deficiency, SBCAD, 2-METHYLBUTYRYL GLYCINURIA, SBCADD, 2-methylbutyryglycine, C5, 2-methylbutyrylcarnitine
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