Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle defect. The clinical presentation in female manifesting carriers varies both in onset and severity. We report on a female with insulin dependent diabetes mellitus and recurrent episodes of hyperammonemia. Since OTC activity measured in a liver biopsy sample was within normal limits, OTC deficiency was initially excluded f...

Ammonia detoxification, which takes place via the hepatic urea cycle, is essential for nitrogen homeostasis and physiological well-being. It has been reported that a reduction in dietary protein reduces urea nitrogen. MicroRNAs (miRNAs) are major regulatory non-coding RNAs that have significant effects on several metabolic pathways; however, little is known on whether miRNAs regulate hepatic ur...

Arginase-1 catalyzes the conversion of arginine to ornithine and urea, which is the final step of the urea cycle used to remove excess ammonia from the body. Arginase-1 deficiency leads to hyperargininemia in mice and man with severe lethal consequences in the former and progressive neurological impairment to varying degrees in the latter. In a tamoxifen-induced arginase-1 deficient mouse model...

Urea-cycle disorders are a group of rare hereditary metabolic diseases characterized by deficiencies of one of the enzymes and transporters involved in the urea cycle, which is necessary for the removal of nitrogen produced from protein breakdown. These hereditary metabolic diseases are characterized by hyperammonemia and life-threatening hyperammonemic crises. Pharmacological treatment of urea...

enzyme activities in several inborn errors of metabolism, and regulation of enzyme activity by substrates. It is the only major, large compendium of this breadth of data about the urea cycle enzymes. It contains much original experimental data. The discussions at the end of each presentation illuminate some of the important controversies from mechanisms substrate regulation to clinical investig...

enzyme activities in several inborn errors of metabolism, and regulation of enzyme activity by substrates. It is the only major, large compendium of this breadth of data about the urea cycle enzymes. It contains much original experimental data. The discussions at the end of each presentation illuminate some of the important controversies from mechanisms substrate regulation to clinical investig...

For many years, the urea cycle was considered to be relatively unimportant in the life history of most teleost fishes. In previous studies, we were surprised to find that newly hatched freshwater rainbow trout embryos had relatively high activities of the key urea cycle enzyme, carbamoyl phosphate synthetase III (CPSase III), and other enzymes in the pathway, whereas adult trout had much lower ...

Sodium phenylacetate & sodium benzoate (Ammonul) NAGS; CPS; ASS; OTC; ASL; ARG Urea cycle disorders: Urea cycle disorders can result from decreased activity of any of the following enzymes: N-acetylglutamate synthetase (NAGS), carbamyl phosphate synthetase (CPS), argininosuccinate synthetase (ASS), ornithine transcarbamylase (OTC), argininosuccinate lyase (ASL), or arginase (ARG).Sodium phenyla...

Four feedlot experiments with 774 cattle have been completed during 1969 to 1970 evaluating two forms of tylosin activity (50, 75 and 100 mg per head per day continuously of tylosin phosphate or tylosin urea adduct) in high concentrate rations. Continuous administration of these three levels of antibiotic activity from either form of tylosin (1) reduced the incidence of liver abscesses, (2) inc...

Carnitine-acylcarnitine translocase (CACT) deficiency is one of the fatty acid oxidation defects that presents early in the newborn period. It is known to be associated with a high mortality with a number of the earlier reported cases presenting as sudden infant death syndrome. Like most inborn errors of metabolism, presentation of CACT deficiency is rather non specific. Typical biochemical pro...