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 improveme...
Topics
- Alleles
- Amino Acid Metabolism, Inborn Errors
- Arginase
- Arginine
- Base Sequence
- Child
- Child, Preschool
- Consanguinity
- Ethnicity
- Genes, Recessive
- Genetic Heterogeneity
- Genotype
- Humans
- Hyperargininemia
- Immunoblotting
- Infant
- Infant, Newborn
- Liver