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

<p>Abstract</p> <p>Background</p> <p>Loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase (<it>HADH</it>) cause protein sensitive hyperinsulinaemic hypoglycaemia (HH). <it>HADH</it> encodes short chain 3-hydroxacyl-CoA dehydrogenase, an enzyme that catalyses the penultimate reaction in mito...

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Detalhes bibliográficos

Principais autores:	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:	BMC 2012-05-01
coleção:	Orphanet Journal of Rare Diseases
Assuntos:	Hyperinsulinism Hypoglycaemia Leucine tolerance
Acesso em linha:	http://www.ojrd.com/content/7/1/25
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