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

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

ORPHANET JOURNAL OF RARE DISEASES, cilt.7, 2012 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 7
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1186/1750-1172-7-25
  • Dergi Adı: ORPHANET JOURNAL OF RARE DISEASES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: Hyperinsulinism, Hypoglycaemia, Leucine tolerance, GLUTAMATE-DEHYDROGENASE, SHORT-CHAIN, HYPERINSULINISM/HYPERAMMONEMIA SYNDROME, INSULIN-SECRETION, BETA-CELL, DEFICIENCY, ACTIVATION, CHILDREN, RELEASE, GENE
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

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.