Similar Diseases
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Results for Query ‹ Glycinuria risk ›
2-Methylbutyryl-CoA dehydrogenase deficiency – Diagnosis
Most individuals with SBCADD are identified through newborn screening, where they present with an elevation of a five carbon acylcarnitine species. Confirmatory testing includes plasma and urine analysis to identify the carnitine and glycine conjugates of 2-methylbutyryl-CoA.
2-Methylbutyryl-CoA dehydrogenase deficiency – Cause and genetics
The disorder is caused by a mutation in the "ACADSB" gene, located on the long arm of human chromosome 10 (10q25-q26). It is inherited in an autosomal recessive manner, which means an affected individual must inherit one copy of the mutation from each parent.