arginase deficiency

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 ?
This is my story with arginase deficiency. A decent amount of information was told to me by my parents.
Also helping us from NUCDF was Mindy Rosen, whose son also suffered from arginase deficiency. Mindy told my parents about a doctor specializing in arginase deficiency at UCLA.
The website's focus was going to be about arginase deficiency, as well as urea cycle disorders.
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."
(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. J Neurol Neurosurg Psychiatry 1985;48:1188-9.
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.