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  • Title: Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities.
    Author: Robb RM, Dowton SB, Fulton AB, Levy HL.
    Journal: Am J Ophthalmol; 1984 Jun; 97(6):691-6. PubMed ID: 6731535.
    Abstract:
    A 33-month-old boy with an inborn error of vitamin B12 metabolism characterized by methylmalonic aciduria, homocystinuria, cystathioninuria , and hypomethioninemia had poor vision and a progressive retinal pigmentary degeneration. The child had early growth retardation with microcephaly, developmental delay, and a megaloblastic anemia. The retinal lesions were first noted when he was 1 year of age and, by ophthalmoscopy and by electroretinographic testing, have progressed. Treatment with hydroxocobalamin and L-methionine improved the anemia and the biochemical abnormalities but apparently did not halt the retinal degeneration. We believe the retinopathy is a feature of this disease, particularly in patients with infantile involvement. The retinal lesion may be caused by an unidentified abnormality of sulfur amino acid metabolism.
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