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

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

  • J Inherit Metab Dis. 2011 Jun;34(3):835-42. doi: 10.1007/s10545-011-9287-7.
Esmeralda Martins 1,  M Luis Cardoso,  Esmeralda Rodrigues,  Clara Barbot,  Altina Ramos,  Michael J Bennett,  Elisa Leão Teles,  Laura Vilarinho
Affiliations

Affiliation

  • 1 Unidade de Doenças Metabólicas, Hospital de Crianças Maria Pia, Rua da Boavista, 827, 4050-111 Porto, Portugal. esmeralda.g.martins@gmail.com
PMID: 21347589 DOI: 10.1007/s10545-011-9287-7
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.

Figures