Congenital Transcobalamin Ii Deficiency : Early Diagnosis Can Prevent Irreversible Neurological Damage
نویسندگان
چکیده
منابع مشابه
Neurological involvement in hereditary transcobalamin II deficiency.
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...
متن کاملTransport of therapeutic cyanocobalamin in the congenital deficiency of transcobalamin II (TC II).
Cobalamin (Cbl) transport was studied in the circulation of a child deficient in transcobalamin II (TC II) after 1.0 mg of cyanocobalamin (CN-Cbl) either intramuscularly or orally. Pertinent observations include the following: (1) There was no detectable TC II in the serum as measured immunologically or by binding capacities in vivo or in vitro. (2) Transcobalamin I (TC I) was present in at lea...
متن کاملCongenital Transcobalamin II Deficiency Presenting Atypically With a Low Serum Cobalamin Level: Studies Demonstrating the Coexistence of a Circulating Transcobalamin
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...
متن کاملCongenital Transcobalamin II Deficiency Presenting Atypically With a Low Serum Cobalamin Level: Studies Demonstrating the Coexistence of a Circulating Transcobalamin
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...
متن کاملTranscobalamin 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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ژورنال
عنوان ژورنال: Pediatric Hematology Oncology Journal
سال: 2019
ISSN: 2468-1245
DOI: 10.1016/j.phoj.2019.08.117