Leucine-sensitive hypoglycaemia treated with diazoxide.

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Leucine-sensitive hypoglycaemia treated with diazoxide.

It has been estimated that about one-third of children with so-called idiopathic hypoglycaemia are leucine sensitive (Mabry, Di George, and Auerbach, 1960). However, the total number of leucine-sensitive cases reported is still relatively small. In 1960, Di George and Auerbach knew of no more than 30 cases and only a few have been reported since then. We therefore describe two further cases, on...

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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. Mutations in GLUD1 encoding glutamate dehydrogenase, also cause protein sensitive HH (due to leucine se...

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Reversible Pulmonary Hypertension in an Infant Treated with Diazoxide

Background: Diazoxide is the main therapeutic agent for congenital hyperinsulinism. The drug is generally well tolerated; however, in this report severe adverse effects including heart failure (HF) and pulmonary hypertension (PH) in an infant are reported.Case report: A sixteen-day male infant with persistent hypoglycemia and with diagnosis of congenital hyperinsulinism underwent near total pan...

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ژورنال

عنوان ژورنال: Archives of Disease in Childhood

سال: 1967

ISSN: 0003-9888,1468-2044

DOI: 10.1136/adc.42.224.410