arginase deficiency

arginase deficiency

an autosomal-recessive aminoacidopathy involving the biosynthesis of urea; arginine is elevated in blood and urine and may cause secondary cystinuria; orotic aciduria is common, but hyperammonemia is rare. Clinical signs include psychomotor retardation, hepatomegaly, and scalp discoloration. Also called argininemia.

arginase deficiency

Metabolic disease Congenital deficiency of arginase, which results in hyperargininemia and episodic hyperammonemia, leading to mental retardation and spasticity
References in periodicals archive ?
The information in 1995 was sporadic at best on urea cycle and even less on my defect, arginase deficiency.
Mindy told my parents about a doctor specializing in arginase deficiency at UCLA.
It was going to be a patient advocacy website that would hopefully benefit current and new patients with overcoming the greatest hurdle of having arginase deficiency.
Having a rare disease is challenging at best and arginase deficiency is no exception and I learned at a young age to always do my best with what has been given me.
As a family we are grateful for this opportunity to tell our story and hope that we can and will help other families with arginase deficiency and urea cycle disorders.
Arginase Deficiency has allowed us to do things that can and hopefully will help people with Arginase Deficiency and Urea Cycle disorders.
3) With the exception of Arginase deficiency, all other enzyme deficiencies of the UCD result in low plasma concentration of arginine, and thus, the arginine availability may become a rate limiting step in the NO generation.
Impaired neurotransmitter amine metabolism in arginase deficiency.
For example, children with spastic diplegic CP may look the same on neurological examination, but may have different etiologic antecedents, including brain injury associated with prematurity, brain malformation, specific genetic disease such as arginase deficiency, or HIV/AIDS.
We easily confirmed the diagnosis of arginase deficiency and began therapy that will be, in the absence of a more definitive treatment, life-long.