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Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.

Human genetics - 1 Feb 2006

Madsen Pia Pinholt, Kibaek Maria, Roca Xavier, Sachidanandam Ravi, Krainer Adrian R, Christensen Ernst, Steiner Robert D, Gibson K Michael, Corydon Thomas J, Knudsen Inga, Wanders Ronald J A, Ruiter Jos P N, Gregersen Niels, Andresen Brage Storstein

Abstract excerpt

Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) is an autosomal recessive disorder of L: -isoleucine catabolism. Little is known about the clinical presentation associated with this enzyme defect, as it has been reported in only a limited number of patients. Because the presence of C5-carnitine in blood may indicate SBCADD, the disorder may be detected by MS/MS-based routine newborn screening. It...

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PMID: 16317551
DOI: 10.1007/s00439-005-0070-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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