Abstract
Short-chain 3-hydroxyacyl-CoA dehydrogenase (HADH, SCHAD) deficiency (OMIM #231530) represents a recently described disorder of mitochondrial fatty acid beta-oxidation, with less than ten cases described worldwide. The main clinical presentation of this metabolic disease is different from other inherited defects of fatty acid β−oxidation as the hypoglycemia is associated with hyperinsulinism. We present the clinical, biochemical and molecular findings of four new Caucasian patients with HADH deficiency. These new cases contribute to a more comprehensive description of the phenotype, diagnostic biomarkers and treatment options for this poorly defined disease.
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Communicated by: Carlo Dionisi-Vici
Competing interest: None declared.
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Martins, E., Cardoso, M.L., Rodrigues, E. et al. Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases. J Inherit Metab Dis 34, 835–842 (2011). https://doi.org/10.1007/s10545-011-9287-7
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DOI: https://doi.org/10.1007/s10545-011-9287-7