Long-term follow-up of some early-treated aminoacidopathies associated with ocular abnormalities

Experience in treating some aminoacidopathies associated with ocular abnormalities is reported. Sixteen out of 18 homocystinuric patients were treated with pyridoxine (300–1200 mg/day): 14 showed complete responsiveness, one was partially responsive, and one was a non-responder. In two early-diagnosed B6-responsive children treatment did not stop the progression of ocular abnormalities already present at the time of diagnosis. In one patient, completely asymptomatic at two years of age, a 5 1/2-year treatment with pyridoxine apparently prevented the appearance of either ectopia lentis or myopia. In a ten-year-old-girl affected by hyperornithinemia with gyrate atrophy of the choroid and retina, dietary treatment with a low-protein diet (0.8 g/kg per day) for more than six years reduced her plasma ornithine levels from 1189 to 774 μmol/1 and stopped the progression of the chorioretinal lesions. A short trial of pyridoxine given during the dietary treatment did not lead to a further reduction of her plasma o...