Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase

Creative Commons License

Heslegrave A. J., Kapoor R. R., Eaton S., Chadefaux B., Akcay T., ŞİMŞEK E., ...More

ORPHANET JOURNAL OF RARE DISEASES, vol.7, 2012 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 7
  • Publication Date: 2012
  • Doi Number: 10.1186/1750-1172-7-25
  • Journal Name: ORPHANET JOURNAL OF RARE DISEASES
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Keywords: Hyperinsulinism, Hypoglycaemia, Leucine tolerance, GLUTAMATE-DEHYDROGENASE, SHORT-CHAIN, HYPERINSULINISM/HYPERAMMONEMIA SYNDROME, INSULIN-SECRETION, BETA-CELL, DEFICIENCY, ACTIVATION, CHILDREN, RELEASE, GENE
  • Eskisehir Osmangazi University Affiliated: Yes

Abstract

Background: Loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase (HADH) cause protein sensitive hyperinsulinaemic hypoglycaemia (HH). HADH encodes short chain 3-hydroxacyl-CoA dehydrogenase, an enzyme that catalyses the penultimate reaction in mitochondrial beta-oxidation of fatty acids. Mutations in GLUD1 encoding glutamate dehydrogenase, also cause protein sensitive HH (due to leucine sensitivity). Reports suggest a protein-protein interaction between HADH and GDH. This study was undertaken in order to understand the mechanism of protein sensitivity in patients with HADH mutations.