Topic
Cobalamin transport
About: Cobalamin transport is a research topic. Over the lifetime, 72 publications have been published within this topic receiving 3088 citations.
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TL;DR: A 31 years old woman who at the age of 30 days presented with the classical clinical and laboratory signs of an inborn error of vitamin B12 metabolism and early initiation of aggressive IM treatment is likely associated with disease control and an overall favorable outcome is highlighted.
Abstract: Transcobalamin deficiency is a rare autosomal recessive inborn error of cobalamin transport (prevalence: < 1/1000000) which clinically manifests in early infancy. We describe the case of a 31 years old woman who at the age of 30 days presented with the classical clinical and laboratory signs of an inborn error of vitamin B12 metabolism. Family history revealed a sister who died at the age of 3 months with a similar clinical syndrome and with pancytopenia. She was started on empirical intramuscular (IM) cobalamin supplements (injections of hydroxocobalamin 1 mg/day for 1 week and then 1 mg twice a week) and several transfusions of washed and concentrated red blood cells. With these treatments a clear improvement in symptoms was observed, with the disappearance of vomiting, diarrhea and normalization of the full blood count. At 8 years of age injections were stopped for about two and a half months causing the appearance of pancytopenia. IM hydroxocobalamin was then restarted sine die. The definitive diagnosis could only be established at 29 years of age when a genetic evaluation revealed the homozygous c.1115_1116delCA mutation of TCN2 gene (p.Q373GfsX38). Currently she is healthy and she is taking 1 mg of IM hydroxocobalamin once a week. Our case report highlights that early detection of TC deficiency and early initiation of aggressive IM treatment is likely associated with disease control and an overall favorable outcome.
01 Jan 2002
TL;DR: This short review will focus on those diseases for which a molecular basis of disease has been determined for at least some patients and in particular, on disorders of homocysteine remethylation.
Abstract: Patients with elevated levels of homocysteine may have inherited blocks in a number of enzymes involved in the metabolism of folate and cobalamin. In this short review, I will focus on those diseases for which a molecular basis of disease has been determined for at least some patients and in particular, on disorders of homocysteine remethylation. Classical homocystinuria due to cystathionine synthase deficiency will not be discussed. Neither will be the inborn errors of cobalamin transport. These include intrinsic factor deficiency (gene on chromosome 11q13), transcobalamin II deficiency (gene on chromosome 22q11.2-qter), and Imerslund-Grasbeck deficiency due to the loss of the intrinsic factor-cobalamin receptor, cubilin (gene on chromosome 10p12.1). Although these three disorders can be associated with elevated levels of homocysteine, for the most part homocysteine elevation has not been a prominent feature. (1) For further information on these disorders, recent reviews are suggested. (2, 3)