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

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...

Re: Hadh2 and 3-hydroxyacyl-CoA dehydrogenase.

TO THE EDITOR: To investigate the impact of maternal diabetes on oocyte metabolism and meiotic maturation, Ratchford et al. (10) reported changes in 3-hydroxyacyl-CoA dehydrogenase II (Hadh2) activity in oocytes after treatment with 5-aminoimidazole-4-carboxamide-1-D-ribofuranoside or after administration of human chorionic gonadotropin, respectively (as shown in Figs. 3A and 4A of Ref. 10). Th...

Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Feeding difficulties are common in long chain 3-hydroxyacyl-CoA dehydrogenase deficiency in early childhood and are not associated with developmental disability, metabolic abnormalities, or the overnight feeding regimen. They are an inherent part of the phenotype and it is important to recognise them because of the distress and disruption they cause.

[Short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) deficiency].

Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase.

The mechanism of insulin dysregulation in children with hyperinsulinism associated with inactivating mutations of short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) was examined in mice with a knock-out of the hadh gene (hadh(-/-)). The hadh(-/-) mice had reduced levels of plasma glucose and elevated plasma insulin levels, similar to children with SCHAD deficiency. hadh(-/-) mice were hypersen...