Molecular basis of phenotypic variation in patients with argininemia

  title={Molecular basis of phenotypic variation in patients with argininemia},
  author={Takako Uchino and Selma E. Snyderman and Marie Lambert and Ijaz A. Qureshi and Stuart K. Shapira and Claude Sansaricq and Leonard M. E. Smit and Cornelis Jakobs and Ichiro Matsuda},
  journal={Human Genetics},
Argininemia is an autosomal recessive disorder caused by a deficiency in the liver-type arginase enzyme. Clinical manifestations include progressive spastic diplegia and mental retardation. While the quality of life can severely deteriorate in most such patients, some do show remarkable improvement in neurological symptoms while on controlled diets. We examined the thesis that differences in clinical responses to dietary treatment are based on molecular heterogeneity in mutant arginase alleles… CONTINUE READING