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. Epub 2011 Feb 24.

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.

Publication types

  • Case Reports

MeSH terms

  • 3-Hydroxyacyl CoA Dehydrogenases / deficiency
  • 3-Hydroxyacyl CoA Dehydrogenases / genetics
  • Adolescent
  • Child
  • Consanguinity
  • Early Diagnosis*
  • Female
  • Humans
  • Infant
  • Male
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / genetics
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Predictive Value of Tests
  • Young Adult

Substances

  • 3-Hydroxyacyl CoA Dehydrogenases

Supplementary concepts

  • 3-Hydroxyacyl-CoA Dehydrogenase Deficiency