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Arch Ophthalmol. 2001;119:1076-1077.

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

Transcobalamin II (TCII) is a cobalamin (Cbl)-binding plasma protein that promotes the cellular uptake of Cbl (vitamin B₁₂) by many tissues. Transcobalamin II deficiency is a rare autosomal recessive disorder.¹

Report of a Case

A girl, born to healthy nonconsanguineous parents, was seen at age 3 months with pallor, lethargy, failure to thrive, and hypotonia. At age 7 months, she was seen by a physician because of pallor, purpura, hypotonia, myoclonia, epileptiform episodes of blinking, and chronic upper respiratory infections. Her blood cell count revealed severe pancytopenia. Serum Cbl levels were in the low to normal range. Methylmalonyl aciduria and homocystinuria were detected. The total unsaturated Cbl binding capacity of serum, measured as previously described,² was 48 pmol/L (reference range, 440-880 pmol/L), without binding of [⁵⁷Co]Cbl to TCII. Immunoreactive TCII serum levels were 95 pmol/L (reference, >370 pmol/L). Culture findings from the patient's fibroblasts incubated with ³⁵S-methionine expressed immunoreactive radio-labeled TCII with . . . [Full Text of this Article]

Comment
Corresponding author and reprints: Gisèle Soubrane, PhD, CliniqueOphtalmologique, Universitaire de Créteil, 40 avenue de Verdun, 94010 Créteil, France (e-mail: gisele.soubrane@chicreteil.fr).

RELATED LETTER

Retinopathy in Inherited Transcobalamin II Deficiency
Aruna Dharmasena, Antonio Calcagni, and Andrea R. Kerr
Arch Ophthalmol. 2008;126(1):141-142.
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THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Retinopathy in Inherited Transcobalamin II Deficiency
Dharmasena et al.
Arch Ophthalmol 2008;126:141-142.
FULL TEXT