Argininemia (ARGIN) [MIM:207800]: A rare autosomal recessive disorder of the urea cycle. Arginine is elevated in the blood and cerebrospinal fluid, and periodic hyperammonemia occurs. Clinical manifestations include developmental delay, seizures, mental retardation, hypotonia, ataxia and progressive spastic quadriplegia. Note=The disease is caused by mutations affecting the gene represented in this entry.
Schematic diagram of Pfam domains in target sequence
plus wiring diagrams of PDB structures