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...

Fabry disease is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene leading to a deficiency of enzyme alpha-galactosidase A (α-Gal A). Multiple organ systems are implicated disease, most severely cardiac, kidney, and central nervous systems. In this brief review, we will focus on kidney system involvement.

Background: Glucose-6-Phosphate dehydrogenase (G6PD) deficiency is an Xlinked recessive disorder expressed mostly in males. Prevalence of G6PD deficiency varies in different parts of the world’s according to ethnic variation. The incidence varies among different countries in the world and surveys report rates of less than 1% to 35%. The prevalence of G6PD deficiency in the Arab world has variou...

3-methylcrotonyl CoA carboxylase (3-MCC) deficiency is an inborn error of leucine amino acid metabolism. An isolated enzyme should be differentiated from biotin metabolism disorder which has all the four deficiencies. With advent tandem mass spectrometry (TMS), high number infants have been diagnosed with 3-MCC deficiency. Most neonates having appear normal, studies shown increased risk develop...

The necessity of a metal ion for the activity or synthesis of specific enzymes may be revealed by growing the organism under conditions of the metal deficiency and comparing its enzyme systems with those of normal tissue. Waring and Werkman (1) reported that iron deficiency in Aerobatter indologenes resulted in the suppression of a number of enzymes. Zinc deficiency results in increased acid pr...