Gyrate atrophy of retina is caused by accumulation of:: (A) Ornithine, (B) Arginine, (C) Citrulline, (D) none of the above
Answer is A. Arginine is conveed to ornithine then to glutamate--semialdehyde. Subsequent catabolism to alpha-ketoglutarate occurs as described above for. Mutations in ornithine -aminotransferase elevate plasma and urinary ornithine and cause gyrate atrophy of the retina. Treatment involves restricting dietary arginine. Ref: Harper 28th edition, chapter 29.