Leucine-Sensitive Hypoglycæmia

Insulin Hypoglycæmia

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...

Novel and highly sensitive fluorescent assay for leucine aminopeptidases.

l-Leucine aminopeptidases (LAPs) are implicated in the progress of many pathological disorders and play some regulatory roles in tumor cell proliferation, invasion, and/or angiogenesis. Thus, LAPs not only could become new diagnostic or prognostic biomarkers but also may have potential as novel molecular targets for the treatment of several cancers. Highly sensitive assays are critical for earl...

Regulation of leucine uptake by tor1+ in Schizosaccharomyces pombe is sensitive to rapamycin.

TOR protein kinases are key regulators of cell growth in eukaryotes. TOR is also known as the target protein for the immunosuppressive and potentially anticancer drug rapamycin. The fission yeast Schizosaccharomyces pombe has two TOR homologs. tor1+ is required under starvation and a variety of stresses, while tor2+ is an essential gene. Surprisingly, to date no rapamycin-sensitive TOR-dependen...

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...