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

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].

Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: presentation of a long-term survivor.

PURPOSE Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is one of the recently discovered defects of mitochondrial fatty acid beta-oxidation surprisingly associated with ophthalmologic abnormalities. The presentation of a long-term survivor may enlarge the clinical spectrum associated with this disorder. METHODS A 12-year retrospective review of the clinical course of a 19-year-...

[Long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency and cardiomyopathy].

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...