pyridoxine/atrophy

Gyrate atrophy of the choroid and retina that is due to ornithine ketoacid transaminase (OKT) deficiency is an autosomal recessive disorder. Fibroblasts from heterozygotes for the pyridoxine-responsive variant as well as those for the pyridoxine-nonresponsive variant contain intermediate levels of

We discovered the missense mutation, A226V, in the ornithine-delta-aminotransferase (OAT) genes of two unrelated patients with gyrate atrophy of the choroid and retina (GA). One patient, who was a compound for A226V and for the premature termination allele R398ter, showed a significant (P < .01)

When rats received pyridoxine in doses large enough to cause neuropathy in humans, the animals developed gait ataxia that subsided after the toxin was withdrawn. By using quantitative histologic techniques, we found axonal degeneration of sensory system fibers and that the fibers derived from the

Five patients with gyrate atrophy of the choroid and retina showed a 60% of greater decline in plasma ornithine levels during a five week trial of a low protein (10--15 g/day), low arginine (0.50--0.75 g/day) diet supplemented with essential amino acids and pyridoxine administration. These declines

Five patients, ages 12 to 30, with gyrate atrophy have shown substantial (60% or greater) decreases in plasma ornithine concentrations within four to eight weeks when placed on a therapeutic trial of low-protein (10-15 g/day), low-arginine diets supplemented with essential amino acids (EAA) and

Pyridoxine, a water-soluble vitamin, produces a sensory neuronopathy when administered in high doses to dogs. Beagles who received a daily oral dose of 300 mg/kg of pyridoxol hydrochloride developed a swaying gait within 9 days. They eventually became unable to walk, but were not weak. Animals were

Two clinical subtypes of gyrate atrophy (GA) have been defined based on in vivo or in vitro evidence of response to vitamin B6 (pyridoxine), which is the cofactor of the enzyme ornithine aminotransferase (OAT) shown to be defective in GA. We identified the E318K mutation in the OAT gene,

BACKGROUND Observational epidemiologic studies indicate a direct association between homocysteine concentration in the blood and the risk of age-related macular degeneration (AMD), but randomized trial data to examine the effect of therapy to lower homocysteine levels in AMD are lacking. Our

Striking impairment of the antibody response to sheep erythrocytes was found in pyridoxine-deficient rats. Deficiencies in the three other B factors required by the rat, and low protein feeding, having effects on body weight comparable to pyridoxine deficiency, failed to influence the antibody

Neuropathic pain after nerve injury is severe and intractable, and current drugs and nondrug therapies offer substantial pain relief to no more than half of affected patients. The present study investigated the analgesic roles of the B vitamins thiamine (B1), pyridoxine (B6) and cyanocobalamin (B12)

OBJECTIVE To identify mutations in ornithine aminotransferase (OAT) in seven Japanese families with gyrate atrophy (GA), an autosomal recessive chorioretinal degeneration of the eye caused by a generalized biochemical deficiency in OAT; mutations in the OAT gene have shown a high degree of molecular

Gyrate atrophy (GA) is an autosomal recessive eye disease characterized by progressive loss of vision due to chorioretinal degeneration. It is associated with a deficiency of the mitochondrial enzyme ornithine aminotransferase (OATase) with consequent hyperornithinemia. Although the clinical

Fibroblasts from four pyridoxine responsive and three non-responsive patients with gyrate atrophy of the choroid and retina have been examined. Responsive patients had higher activity of ornithine ketoacid transaminase (OKT) in cell homogenates and greater incorporation of radioactivity from