Arginase Deficiency - Missed in Infancy
Arginase deficiency is a rare urea cycle disorder that often escapes early detection—unlike most of its counterparts, it typically doesn’t present in newborns. Instead, it surfaces later in childhood with progressive neurological symptoms, spasticity, and developmental delays. In this video, we break down the genetics, pathophysiology, clinical features, and management strategies every clinician and student should know.
Summar, M.L. and Mew, N.A., 2018. Urea cycle disorders overview. GeneReviews.
Iyer, R.K., Yoo, P.K., Kern, R.M. et al., 2002. Mouse model for human arginase deficiency. Molecular Genetics and Metabolism, 76(4), pp.272-280.
Batshaw, M.L., Tuchman, M., Summar, M. and Seminara, J., 2014. A longitudinal study of urea cycle disorders. Molecular Genetics and Metabolism, 113(1-2), pp.127-130.