ALDOSE REDUCTASE (ALDITOL: NADP oxidoreductase, EC 1.1.1.21) is the enzyme responsible for the conversion of glucose to its sugar alcohol, sorbitol. In this study, aldose reductase and a closely related enzyme, L-hexonate dehydrogenase (L-gulonate: NADP oxidoreductase, EC 1.1.1.19), were purified from rat pancreas. Glutaric acid, 2,4-dimethyl glutaric acid, 3,3-tetramethylene glutaric acid, and...

Glutaric aciduria type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. It results in the accumulation of 3-hydroxyglutaric and glutaric acid. Affected patients can present with brain atrophy and macrocephaly and with acute dystonia secondary to striatal degeneration in most cases triggered by an ...

Glutaric aciduria type I is an uncommon inborn error of metabolism. It is a serious disease, often with a fatal outcome. This study reports the presence of bilateral temporal fluid collections, probably bilateral arachnoid cysts, in association with glutaric aciduria type I. The CT and, when available, MR studies from five patients with this disorder were reviewed. Four of the patients had find...

Azaspiracid (AZA) poisoning was unknown until 1995 when shellfish harvested in Ireland caused illness manifesting by vomiting and diarrhoea. Further in vivo/vitro studies showed neurotoxicity linked with AZA exposure. However, the biological target of the toxin which will help explain such potent neurological activity is still unknown. A region of Irish coastline was selected and shellfish were...

We report three adult sibs (one female, two males) with symptomatic glutaric acidura type I, who were diagnosed after a low carnitine level was found by newborn screening in a healthy newborn of the women. All three adults had low plasma carnitine, elevated glutaric acid levels and pronounced 3-hydroxyglutaric aciduria. The diagnosis was confirmed by undetectable glutaryl-CoA dehydrogenase acti...

I s nanoscience the “first full embodiment of post-academic science”? Have many of the traditional core values of publicly funded university science been eroded to the point where they are now “part of a scientific mythology”? And is it “morally bankrupt” to draw a distinction between ‘pure’ and ‘applied’ science? These claims, which were all made in a recent commentary in Nature Nanotechnology...

organic acidemias, also known as organic acidurias, are a group of disorders characterized by increased excretion of organic acids in urine. they result primarily from deficiencies of specific enzymes in the breakdown pathways of amino acids or from enzyme deficiencies in beta oxidation of fatty acids or carbohydrate metabolism. organic acids also are found in the urine of some patients with mi...

Glutaric aciduria type I, an inherited deficiency of glutaryl-coenzyme A dehydrogenase localized in the final common catabolic pathway of L-lysine, L-hydroxylysine and L-tryptophan, leads to accumulation of neurotoxic glutaric and 3-hydroxyglutaric acid, as well as non-toxic glutarylcarnitine. Most untreated patients develop irreversible brain damage during infancy that can be prevented in the ...