Comments Off

This fact sheet contains general information about arginase deficiency. Every child is different and some of these facts may not apply to your child specifically. Arginase deficiency is thought to be the least common of the urea cycle disorders. This entity also manifests itself in a fashion somewhat. Arginase deficiency is an autosomal recessive inborn error of metabolism caused by a defect in the final step in the urea cycle, the hydrolysis of arginine to urea.


Author: Irwin Jenkins IV
Country: Sierra Leone
Language: English
Genre: Education
Published: 7 July 2017
Pages: 732
PDF File Size: 18.64 Mb
ePub File Size: 1.89 Mb
ISBN: 866-3-14163-318-9
Downloads: 73092
Price: Free
Uploader: Irwin Jenkins IV



Other methods are "routine" hemodialysis, hemofiltration both arteriovenous and venovenousperitoneal dialysis, and continuous-drainage peritoneal dialysis.

Affected individuals often experience a "rebound" hyperammonemia that may require further dialysis, although rarely is this level of intervention required in arginase deficiency.

Pharmacologic management to allow alternative pathway excretion of excess nitrogen. Blocking of ammonia production and the need for ureagenesis is accomplished by arginase deficiency catabolism with adequate non-protein calories and with a combination of the nitrogen scavenger drugs sodium arginase deficiency and sodium benzoate.

Arginase Deficiency

A loading dose of the drugs is followed by maintenance administration, initially intravenously and later orally when the individual is stable.

Intravenous arginase deficiency of these medications are now approved by the FDA and are generally available. Reducing the amount of excess nitrogen in the arginase deficiency and reducing catabolism through the introduction of calories supplied by carbohydrates and fat.

High parenteral glucose plus insulin can be used acutely to diminish endogenous protein catabolism.

Individuals should be transitioned from parenteral to enteral feeds as soon as possible. In early treatment, feeding 1.


Older children require and arginase deficiency lower protein intake. Reducing the risk of neurologic damage. Older individuals are at risk for episodes of hyperammonemia and should continue to be managed by a specialist in metabolic disorders.

Seizures are easily treated by phenobarbital or carbamazepine. Induction studies in cell lines that express only the type II isozyme indicated that its activity could be enhanced several fold by exposure to elevated arginine levels.

This presumably was the mechanism for the arginase deficiency level of the enzyme in arginase deficiency patient and explained the fact that there is persistent ureagenesis in this disorder.

The patient had psychomotor regression since the age of 15 months with paraparesis arginase deficiency she was 3 years old. By the age of 18, she was bedridden.


Five days after the initiation of valproate therapy, she went into a state of stupor and was found arginase deficiency have marked hyperammonemia. The experience suggested that the condition may be underdiagnosed arginase deficiency of its relatively mild symptoms.

However, because urea cycle disorders like arginase deficiency often go unrecognized, these disorders are under-diagnosed, making it difficult to determine the true frequency of urea cycle disorders in the general population.

  • Argininemia - Wikipedia
  • Arginase Deficiency - GeneReviews® - NCBI Bookshelf

This is likely to change now that arginase deficiency can be diagnosed by newborn screening. Related Disorders Symptoms of the following disorders may be similar to those of arginase deficiency. Comparisons may be useful for a differential diagnosis: The urea cycle disorders are a group of rare disorders affecting the urea cycle, a series of biochemical processes in which nitrogen is converted into urea and arginase deficiency from the body through arginase deficiency urine.

The symptoms of all urea cycle disorders vary in severity and result from the excessive accumulation of ammonia in the blood and body tissues hyperammonemia.