Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities | Macquarie University ResearchOnline

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Title: Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities
Related: American journal of ophthalmology, Vol. 97, Issue 6, (1984), p.691-696
Publisher: Elsevier
Date: 1984
Author/Creator: Robb, R. M
Author/Creator: Dowton, S. Bruce
Author/Creator: Fulton, A. B
Author/Creator: Levy, H. L
Description: A 33-month-old boy with an inborn error of vitamin B12 metabolism characterized by methylmalonic aciduria, homocystinuria, cystathionuria, 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.
Description: 6 page(s)
Resource Type: journal article
Organisation: Macquarie University. Office of the Vice-Chancellor

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