In several recent publications (14) it has been reported that dietary aminopterin produces a marked decrease in rat liver choline oxidase activity as measured by the whole homogenate technique. A simple folic acid deficiency, however, has been shown to produce only slight changes in the activity of this enzyme (5). It was probable that a simple folic acid deficiency did not deplete the tissues ...

Purine Nucleoside Phosphorylase (PNP) deficiency is a rare autosomal recessive metabolic disorder. In PNP-deficiency disorder, the deficient enzyme leads to accumulation of toxic metabolites, especially in lymphocytes and the metabolites exert toxic effect on T-cell generation. Purine nucleoside phosphorylase deficiency causes decreased numbers of T cells and lymphopenia. The patients suffering...

The G6PC3 gene encodes the ubiquitously expressed glucose-6-phosphatase enzyme (G-6-Pase β or G-6-Pase 3 or G6PC3). Bi-allelic G6PC3 mutations cause a multi-system autosomal recessive disorder of G6PC3 deficiency (also called severe congenital neutropenia type 4, MIM 612541). To date, at least 57 patients with G6PC3 deficiency have been described in the literature.G6PC3 deficiency is characteri...

Galactosemia is an autosomal recessive disorder of Galactose metabolism, characterized by inability to metabolize galactose. Three enzymes are principally involved in the metabolic conversion of galactose to glucose: a galactose specific kinase (GALK), galactose-1-phosphate uridyl transferase (GALT) and uridine diphosphate galactose-4-epimerase (GALE). On the basis of defective enzyme the disea...

Since this symposium is concerned with enzymes in medicine, I shall consider only the work that has been done in human malnutrition. It would be impossible to deal with the very large literature on enzyme changes in animals under different dietary conditions. I shall also confine myself to work which is related to protein and calorie deficiency because this is the field with which I am familiar...

INTRODUCTION Glucose-6-phosphate dehydrogenase deficiency (G6PD) is an X-linked genetic disorder with a relatively high frequency in malaria-endemic regions. It is an obstacle to malaria elimination, as primaquine administered in the treatment of malaria can cause hemolysis in G6PD-deficient individuals. This study presents information on the prevalence of G6PD deficiency in Sistan and Balouche...

Phenylketonuria (PKU) is the most common autosomal recessive disorder of amino acid metabolism. Thedisease is caused mainly by mutations in the phenylalanine hydroxylase (PAH) gene, encoding phenylalaninehydroxylase (PAH) enzyme. The PAH enzyme deficiency results in the elevation of phenylalanine inthe blood, which may cause severe irreversible mental retardation in the affect...

Boron (B) deficiency is detrimental to Glycine max (L.) Merr., which one of the leading oil crops. In this study, physiological analysis soybean seedlings under B and control after 12 h, 24 72 h 8 days was carried out, roots were subjected transcriptome sequencing analysis. The results showed that deficiency, plant height, SPAD chlorophyll fluorescence value decreased significantly, indicating ...

The etiology of 3-ketothiolase deficiency has been attributed to a defect of mitochondrial acetoacetyl-CoA thiolase because the acetoacetyl-CoA thiolase activity in related materials is not activated by K+, a property characteristic for this enzyme. We studied the enzyme protein and the biosynthesis of mitochondrial acetoacetyl-CoA thiolase, using cultured skin fibroblasts from a 5-yr-old boy w...