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Arch Ophthalmol. 2005;123:1143-1146.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

The cobalamin C form of methylmalonic aciduria and homocystinuria (Cc-CMAH) is an inherited deficiency of the 2 coezymatically active vitamin B₁₂ derivatives, methylcobalamin and deoxyadenosylcobalamin (Figure 1). Its heterogeneous clinical manifestations include feeding difficulties, neural dysfunction, and ophthalmic abnormalities.¹ The ophthalmic features are visual impairment, nystagmus, and retinopathy with conspicuous maculopathy.^1-2 The mechanism by which the biochemical abnormalities cause retinal disease has not been defined. We analyzed photoreceptor cell and postreceptoral processes represented by electroretinographic responses in a child with Cc-CMAH.

Figure appears in full text version. Figure 1. Schematic diagram of the 2 vitamin B12 derivatives. The defective derivatives deoxyadenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) act as coenzymes. The site of the defect in the cobalamin C form of methylmalonic aciduria and homocystinuria is circled. TC II indicates transcobalamin II; GSCbl, glutathionylcobalamin; CblII and CblI, cobalamins with cobalt valences of 2+ and 1+, respectively; OH-Cbl, hydroxycobalamin; MS, methionine synthase; and CoA, coenzyme . . . [Full Text of this Article]

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AUTHOR INFORMATION
Efthymia K. Tsina, MD, PhD; Deborah L. Marsden, MD; Ronald M. Hansen, PhD; Anne B. Fulton, MD

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