Homozygous transcobalamin II deficiency maintained on oral hydroxocobalamin
نویسندگان
چکیده
منابع مشابه
Homozygous transcobalamin II deficiency maintained on oral hydroxocobalamin.
A case of transcobalamin II (TCII) deficiency in which a total absence of TCII was demonstrated both functionally and immunologically is reported. Unlike previously described patients, this child has been maintained on oral hydroxocobalamin, 2 mg daily, without any parenteral supplementation for the last five years. At the age of six years her development is normal and her health is good. Plasm...
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A case of hereditary transcobalamin II deficiency with neurological involvement is described. The patient presented in early infancy with megaloblastic anaemia and was treated with folinic acid from 6 weeks of age. The diagnosis of transcobalamin II deficiency was not made until he was 2 years old when he showed severely retarded intellectual development, ataxia and pyramidal deficit in the lim...
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Thirty-two patients treated for B12 defidetected in 5 of 12 patients given two ciency with one or two initial depot series depot series 1-3 mo apart, while antiof five i.m. injections of 1 mg hydroxocobody to TC II detectable only after the balamin on alternate days followed by more sensitive immunoelectrophoresis i.m. injection of 1 mg hydroxocobalamin occurred in 2 of 20 patients given one ev...
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OBJECTIVE Transcobalamin II deficiency is one of the rare causes of inherited vitamin B12 disorders in which the patients have characteristically normal or high vitamin B12 levels related to the transport defect of vitamin B12 into the cell, ending up with intracellular cobalamin depletion and high homocysteine and methylmalonic acid levels. MATERIALS AND METHODS Herein, we describe the findi...
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ژورنال
عنوان ژورنال: Blood
سال: 1985
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v66.5.1022.bloodjournal6651022