Article
Molecular basis of phenotypic variation in patients with argininemia.
Human genetics - 1 Sept 1995
Uchino T, Snyderman S E, Lambert M, Qureshi I A, Shapira S K, Sansaricq C, Smit L M, Jakobs C, Matsuda I
Abstract excerpt
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...
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