Ophthalmological findings of phenylketonuria: a survey of 14 cases.
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Biomedical subjects
Publications and source records attributed to L Cotticelli.
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In vitro experimental evidence suggests tryptophan (TRP) is involved in protein modifications which could cause cataract formation in vivo. Previous studies of tryptophan plasma and serum metabolism are conflicting. In this study free and bound TRP plasma levels were measured in patients with senile cataract and in controls after an oral load of L-TRP (20 mg/kg b.w.). Free TRP levels were higher in patients than in controls one hour after L-TRP administration.
Red cell glutathione has been assayed in a family affected by Leber's optic atrophy. The results are in agreement with a defective cyanide metabolism. The transmission mechanism of the disease is discussed. Lastly, a preventive and therapeutic approach is proposed.
Clinical report of a 23-year-old woman with total IgA-deficit, who had suffered for 2 years from a connective tissue disease similar to lupus erythematosus, with severe hemorrhagic retinitis but without any renal involvement.