Article
Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase.
Orphanet journal of rare diseases - 14 May 2012
Heslegrave Amanda J, Kapoor Ritika R, Eaton Simon, Chadefaux Bernadette, Akcay Teoman, Simsek Enver, Flanagan Sarah E, Ellard Sian, Hussain Khalid
Abstract excerpt
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 β-oxidation of fatty acids. Mutations in GLUD1 encoding glutamate dehydrogenase, also cause protein sensitive HH (due to leucine sensitivity)....
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