A novel mutation in ARG1 gene is responsible for arginase deficiency in an Asian family.

Abstract excerpt

Argininemia is a rare autosomal recessive metabolic disorder caused by a deficiency in the arginase enzyme, which is the final enzyme in the urea cycle and responsible for the hydrolysis of arginine to urea and ornithine. The disease becomes symptomatic during childhood and is characterized by progressive spastic quadriplegia, progressive mental impairment, growth retardation, and periodic episodes of...

Topics

• Arginase
• Child
• Female
• Humans
• Hyperargininemia
• Mutation