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Article

Retrospective analysis of isobutyryl CoA dehydrogenase deficiency.

Minerva pediatrics - 1 Oct 2024

Zhang Zhilei, Sun Yun, Wang Yan-Yun, Ma Ding-Yuan, Wang Xin, Cheng Wei, Jiang Tao

Abstract excerpt

BACKGROUND: Isobutyryl-CoA dehydrogenase deficiency is a rare, autosomal recessive hereditary disease caused by a disorder in valine metabolism due to the deficiency of isobutyryl-CoA dehydrogenase. We provided two new mutations for ACAD8 and analyzed new sight to explore the association between the clinical phenotype and genotype of this disease. METHODS: The concentration of butyrylcarnitine was tested by...

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Share to Acyl-CoA Dehydrogenase
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Share to Amino Acid Metabolism, Inborn Errors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34647701
DOI: 10.23736/S2724-5276.21.06179-6

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