Transcobalamin II Deficiency in Four Cases with Novel Mutations
نویسندگان
چکیده
منابع مشابه
Transcobalamin II Deficiency in Four Cases with Novel Mutations
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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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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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 transcobalamin II deficiency with several unique features is described. The clinical presentation was typical. except for a slightly delayed age at presentation and the occurrence of apparent neurologic dysfunction from the beginning. The unusual biochemical feature was a low serum cobalamin level (97 pg/mI). Several cobalaminbinding protein abnormalities coexisted and antedated cobal...
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BACKGROUND Leukocyte adhesion deficiency type I (LAD-I) is a rare, autosomal recessive inherited immunodeficiency disease. LAD-I is caused by mutations in the ITGB2 gene and characterized by recurrent severe bacterial infections, as well as impaired wound healing with lack of pus formation. METHODS In this study, we investigated ITGB2 gene mutations in 12 patients and their parents. Genomic D...
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ژورنال
عنوان ژورنال: Turkish Journal of Hematology
سال: 2015
ISSN: 1300-7777
DOI: 10.4274/tjh.2014.0154