2-methylbutyryl-CoA dehydrogenase deficiency

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Synonyms: 2-methylbutyric aciduria | Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency | SBCAD deficiency | Short/branched-chain acyl-coA dehydrogenase deficiency

A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic although patients with muscular hypotonia developmental delay and seizures (among others) have been reported.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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2-methylbutyryl-CoA dehydrogenase deficiency?

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