Gyrate atrophy of retina is caused by accumulation of:
Correct Answer: Ornithine
Description: 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.
Category:
Biochemistry
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