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Case Reports
. 2011 Jun;34(3):835-42.
doi: 10.1007/s10545-011-9287-7. Epub 2011 Feb 24.

Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases

Esmeralda Martins  1 , M Luis Cardoso, Esmeralda Rodrigues, Clara Barbot, Altina Ramos, Michael J Bennett, Elisa Leão Teles, Laura Vilarinho
Affiliations
Case Reports

Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases

Esmeralda Martins et al. J Inherit Metab Dis. 2011 Jun.

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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References

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