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

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. Mutat...

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Detalhes bibliográficos
Main Authors: Heslegrave, Amanda J, Kapoor, Ritika R, Eaton, Simon, Chadefaux, Bernadette, Akcay, Teoman, Simsek, Enver, Flanagan, Sarah E, Ellard, Sian, Hussain, Khalid
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2012
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3433310/
https://ncbi.nlm.nih.gov/pubmed/22583614
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-25
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