Potential role of ARG1 c.57G > A variant in Argininemia.

Abstract excerpt

BACKGROUND AND OBJECTIVE: Argininemia (OMIM: 207800), as well as arginase deficiency, a disorder of the urea cycle caused by deficiency of arginase 1 (ARG1, NP_000036.2), is a scarce autosomal recessive genetic disease. The patients who suffered with argininemia often showed spastic paraplegia, epileptic seizures, severe mental retardation, and even the hyperammonemia. In neonatal screening, we found a healthy...

Topics

• Female
• Humans
• Arginase
• High-Throughput Nucleotide Sequencing
• Homozygote
• Hyperargininemia
• Mutation