Arginase deficiency.
Hyperargininemia due to arginase deficiency is a rare, inherited, urea cycle disorder. We report a case of arginase deficiency in a 5-year old boy presenting with mild hyperammonemia, hyperargininemia, and dibasic aminoaciduria.
Christopher
R
R
Department of Neurochemistry, National Institute of Mental Health and Neurosciences, Bangalore.
Rajivnath
V
V
Shetty
K T
KT
D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005808:Genes, Recessive; D006801:Humans; D020162:Hyperargininemia / Q000175:diagnosis / Q000235:genetics*; D008297:Male