The induction of tryptophan pyrrolase in chick liver by hydrocortisone was studied in copper- and magnesium-deficient chicks. Magnesium deficiency did not influence the induction of the enzyme, whereas copper deficiency significantly decreased it. These results suggest that tryptophan pyrrolase of chick liver, like that in Pseudomonas, is a copper-containing enzyme.

T HIRTY-FIVE YEARS ago Dr William Dameshek, the first editor of the emerging journal Blood, invited me to write a review on “The Hemolytic Effect of Primaquine.”’ At the time, primaquine sensitivity, which had just recently been shown to be caused by a deficiency of the enzyme glucose-6-phosphate dehydrogenase (G6PD); represented a unique example of an inherited deficiency of an enzyme that cau...

I T HAS BECOME increasingly apparent that many forms of hemolytic disease are due to hereditary enzyme deficiencies affecting the erythrocytes. The drug-induced hemolytic anemias may be due to glucose-fl-phosphate dehydrogenase (G-6-PD ) deficiency, glutathione reductase (GSSG-R) deficiency, or to a deficiency in reduced glutathione (GSFI ). Nonspherocytic congenital hemolytic anemia may be due...

The dietary deficiency of essential fatty acids results in anatomical changes in animals, which are accompanied by changes in the polyunsaturated fatty acid content of the tissues (1). The chemical manifestations of the deficiency are principally a greatly increased content of trienoic acids and a decrease in the other polyunsaturated acids in the tissues, notably in the heart and liver (2). Kl...

2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency is a novel inborn error of isoleucine degradation. In this article, we report the elucidation of the molecular basis of MHBD deficiency. To this end, we purified the enzyme from bovine liver. MALDI-TOF mass spectrometry analysis revealed that the purified protein was identical to bovine 3-hydroxyacyl-CoA dehydrogenase type II. The hu...

Methylmalonyl-CoA mutase (MCM) is an adenosylcobalamin-dependent enzyme that catalyses isomerization between methylmalonyl-CoA and succinyl-CoA (3-carboxypropionyl-CoA). Genetic deficiency of this enzyme in man causes an often fatal disorder of organic acid metabolism termed mut methylmalonicacidaemia. We report cloning of a mouse MCM cDNA and the characterization of its primary structure and b...

Dihydropyrimidinase (DHP) is the second enzyme in the catabolism of 5-fluorouracil (5FU), and it has been suggested that patients with a deficiency of this enzyme are at risk from developing severe 5FU-associated toxicity. In this study, we demonstrated for the first time that in one patient the severe toxicity, after a treatment with 5FU, was attributable to a partial deficiency of DHP. Analys...

Triosephosphate isomerase (TPI) is a glycolytic enzyme that converts dihydroxyacetone phosphate (DHAP) into glyceraldehyde 3-phosphate (GAP). Glycolytic enzyme dysfunction leads to metabolic diseases collectively known as glycolytic enzymopathies. Of these enzymopathies, TPI deficiency is unique in the severity of neurological symptoms. The Drosophila sugarkill mutant closely models TPI deficie...

OBJECTIVE Easy tool for newborn screening of Gaucher and Hurler diseases. METHODS Method comparison between fluorometric enzymatic activity assay on a digital microfluidic platform and micro-titer plate bench assay was performed on normal (n = 100), Gaucher (n = 10) and Hurler (n = 7) dried blood spot samples. RESULTS Enzymatic activity analysis of glucocerebrosidase (Gaucher) and α-l-iduro...