What causes transcobalamin deficiency?

Mutations in the TCN2 gene cause transcobalamin deficiency. The TCN2 gene provides instructions for making a protein called transcobalamin. This protein attaches (binds) to cobalamin and transports the vitamin to cells throughout the body.

Is transcobalamin 2 a common recessive disease?

Transcobalamin II deficiency is a rare autosomal recessive disease characterized by decreased cobalamin availability, which in turn causes accumulation of homocysteine and methylmalonic acid.

Is B12 deficiency inherited?

Genetic mutation in second transporter protein was involved in transport of vitamin into cell is one of the evident causes of hereditary Vit. B12 deficiency. Gene mutations can have crucial effects on individual’s ability to digest, absorb, and use vitamin B12.

What is the role of transcobalamin 2?

Normal Function The TCN2 gene provides instructions for making a protein called transcobalamin (formerly known as transcobalamin II). This protein transports cobalamin (also known as vitamin B12) from the bloodstream to cells throughout the body.

How do you test for Transcobalamin?

Unsaturated Transcobalamin (apoTC) can be measured by a binding assay using radiolabeled cobalamin. The Active B12 test analyzes saturated Transcobalamin (holoTC) and we hypothesize that this test can be used to measure total TC by additional in vitro saturation with cobalamin.

How does Mthfr affect B12?

MTHFR stands for methylenetetrahydrofolate reductase, which is why it is called MTHFR. It is a genetic mutation, and approximately 30% of the population worldwide has it. The mutation affects the ability of the body to turn vitamin B12 and folate into forms the body can utilize.

What is the role of Transcobalamin II in vitamin B12 metabolism?

The IF‐vitamin B12 complex is absorbed via the IF‐B12 receptor, and vitamin B12 is subsequently bound to transcobalamin II (TC II) and released into the circulation. TC II facilitates the transport of vitamin B12 in blood to various tissues.

Can you take vitamin B12 with polycythemia?

However, this can have very serious side effects. Don’t attempt vitamin B12 therapy without close supervision by your healthcare provider. High numbers of red blood cells (polycythemia vera): The treatment of vitamin B12 deficiency can unmask the symptoms of polycythemia vera.

What is imerslund Grasbeck syndrome?

Imerslund-Grasbeck syndrome (IGS) is a rare condition characterized by vitamin B12 deficiency, often causing megaloblastic anemia. IGS usually appears in childhood. Other features may include failure to thrive, infections, and neurological damage.

What protein is needed for vitamin B12 absorption in the intestine?

Normally, vitamin B12 is readily absorbed in the last part of the small intestine (ileum), which leads to the large intestine. However, to be absorbed, the vitamin must combine with intrinsic factor, a protein produced in the stomach.

What vitamins help polycythemia?

High numbers of red blood cells (polycythemia vera): The treatment of vitamin B12 deficiency can unmask the symptoms of polycythemia vera.

What is transcobalamin II deficiency?

Summary Transcobalamin II deficiency is an autosomal recessive disorder with onset in early infancy characterized by failure to thrive, megaloblastic anemia, and pancytopenia. Other features include methylmalonic aciduria, recurrent infections, and vomiting and diarrhea.

What are the first signs of transcobalamin deficiency?

The first signs of transcobalamin deficiency are typically a failure to gain weight and grow at the expected rate (failure to thrive), vomiting, diarrhea, and open sores (ulcers) on the mucous membranes such as the lining inside the mouth.

What is the difference between megaloblastic anemia and transcobalamin deficiency?

Megaloblastic anemia results in a shortage of red blood cells, and the remaining red blood cells are abnormally large. Individuals with transcobalamin deficiency may also have a shortage of white blood cells (neutropenia), which can lead to reduced immune system function.

What causes a lack of cobalamin in humans?

Most TCN2 gene mutations that cause transcobalamin deficiency lead to a complete or near-complete lack (deficiency) of transcobalamin. Other TCN2 gene mutations result in a transcobalamin protein that cannot transport cobalamin to cells.