References 1. Brusilow SW, Maestri NE. Urea cycle disorders: diagnosis, pathophysiology, and therapy. Adv Pediatr 1996;43:127–70. 2. Batshaw ML, Robinson MB, Ye X, Pabin C, Daikhin Y, Burton BK, et al. Correction of ureagenesis after gene transfer in an animal model and after liver transplantation in humans with ornithine transcarbamylase deficiency. Pediatr Res 1999;46:588–93. 3. Batshaw ML, B...

Progress in gene editing research has been accelerated by utilizing engineered nucleases in combination with induced pluripotent stem cell (iPSC) technology. Here, we report transcription activator-like effector nuclease (TALEN)-mediated reincorporation of Arg1 exons 7 and 8 in iPSCs derived from arginase-1-deficient mice possessing Arg1Δ alleles lacking these terminal exons. The edited cells c...

Ornithine transcarbamylase (OTC) is one of the enzymes involved in the urea cycle. OTC deficiency, which is caused by impaired synthesis of OTC in the liver, is the most common inherited disease of urea cycle disorders. In this paper, we describe the case of an OTC-deficient Japanese boy wherein an analysis based on high-density single-nucleotide polymorphisms (SNPs) revealed the absence of the...

The hepatocyte paraffin 1 (Hep Par 1) antibody is widely used as a hepatocyte marker, recognizing carbamoyl phosphate synthetase 1 (CPS1), an essential component of the urea cycle. Various missense, nonsense, and frameshift mutations occur in the CPS1 gene. In neonatal patients with homozygous CPS1 deficiency (CPS1D), urea cycle defects with resulting severe hyperammonemia can be fatal, though ...

BACKGROUND Citrullinemia type II is an autosomal recessive urea cycle disorder and a subtype of citrin deficiency. However, the management of recurrent hyperammonemia with neurologic symptoms in patients with citrullinemia type II is quite different from the management of other types of urea cycle disorders. In pats with citrullinemia type II, regional anesthesia might be a good choice for the ...

Ornithine transcarbamylase deficiency (OTCD, OMIM# 311250) is an inherited X-linked urea cycle disorder that is characterized by hyperammonemia and orotic aciduria. In this report, we describe a new animal model of OTCD caused by a spontaneous mutation in the mouse Otc gene (c.240T>A, p.K80N). This transversion in exon 3 of ornithine transcarbamylase leads to normal levels of mRNA with low leve...

The purpose of this study was to determine if carbamoyl phosphate synthetase III (CPSase III) and related urea cycle enzyme activities in skeletal muscle tissue of juvenile rainbow trout (Oncorhynchus mykiss) increase during short- or long-term exercise, in parallel with changes in whole-body urea excretion rates. Urea excretion was elevated by 65% in fish that swam at high-speed (50 cm/s) vs. ...

Diet is one of the mainstays of the treatment of patients with urea cycle disorders. The protein intake should be adjusted to take account of the inborn error and its severity and the patient's age, growth rate, and individual preferences. Currently, the widely used standards for protein intake are probably more generous than necessary, particularly for those with the more severe variants. Most...

Investigations in our laboratory have established that infection with SalmoneUa pulorum strain CDC 3522/51 results in a decrease in arginine, methionine, glycine and tryptophan in the blood and liver of 1to 3-day old White Leghorn cockerels (Ross et al., 1955a). Subsequent experiments revealed that the administration of arginine within 24 hr following infection produced a marked increase in sur...

Grøfte, Thorbjørn, Dorthe Svenstrup Jensen, Henning Grønbæk, Troels Wolthers, Søren Astrup Jensen, Niels Tygstrup, and Hendrik Vilstrup. Effects of growth hormone on steroid-induced increase in ability of urea synthesis and urea enzyme mRNA levels. Am. J. Physiol. 275 (Endocrinol. Metab. 38): E79–E86, 1998.—Growth hormone (GH) reduces the catabolic side effects of steroid treatment due to its e...