Hyperlysinemia Associated with Retardation

Clinical and Biochemical Studies on Periodic Hyperammonemia with Hyperlysinemia and Homocitrullinuria

“…In their original report, there was no description about citrulline or homocitruffine in serum or urine. Cases of persistent hyperlysinemia previously reported (Woody 1964;Ghadimi et al 1965;Armstrong and Robinow 1967) had no episodes of hyperammonemia and serum concentrations of lysine were far excess compared with Colombo's case and our case. Dancis et al (1969) demonstrated that lysine-ketoglutarate reductase of cultured skin fibrobl.asts of hyperlysinemic patients was considerably reduced and this enzyme defect was the primary lesion in this disease.…”

The hypermobility syndrome. Musculoskeletal complaints associated with generalized joint hypermobility.

“…Several rare diseases may show this feature, 419 including the disorders of amino acid metabolism, homocystinuria (Schimke, McKusick, Huang, and Pollack, 1965) and hyperlysinaemia (Ghadimi, Binnington, and Pecora, 1965). Levine (1958) noted that hyperextensibility of the finger joints is common in children with rheumatic fever and Callegarini (1957) showed the same with joint range measurements.…”

Neurochemical Evidence that Lysine Inhibits Synaptic Na+,K+-ATPase Activity and Provokes Oxidative Damage in Striatum of Young Rats In vivo

“…FH was first reported in individuals with physical and mental retardation and so far less than 30 cases of the disorder have been reported [2,[6][7][8]. However, large increases of Lys have been identified in blood of asymptomatic FH individuals, suggesting that hyperlysinemia itself may not be associated with a clinical phenotype [9].…”