Article
Identification of a novel homozygous intron 3 splice site (A>T) mutation in the ARG1 gene in cerebral palsy pediatric cases from Odisha, India.
Molecular biology reports - 1 May 2022
Behera Chinmay Kumar, Rup Amit Ranjan, Samal Sagnika, Das Biswadeep
Abstract excerpt
BACKGROUND: Arginase enzyme is essential for the catalysis of the last step of the urea cycle, resulting in the conversion of L-arginine to L-ornithine and urea. Arginase deficiency could lead to hyperarginemia, an autosomal recessive disorder of the urea cycle that could result in developmental manifestations after the first year of life, followed by gradually progressive atonic cerebral palsy, spastic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.