Transcobalamin II Deficiency

Transcobalamin II Deficiency General Information

Transcobalamin II Deficiency is an autosomal recessive condition that can be caused by inefficient gastrointestinal absorption of vitamin B12. The disease usually causes specific signs and symptoms in the first one or two months of life of the patient, and can be experienced as vomiting and poor growth. There are cases in which the patient can also develop certain infections due to the immune system deficiency such as hypogammaglobulinemia. The main sign of the diseases in the patient’s organism is the presence of another condition called megaloblastic anemia. There are also cases in which a patient who suffers from Transcobalamin II Deficiency can also experience a condition called serum cobalamins, due to the affection to the methyl vitamin B12 bounding to the another blood circulation transport protein called transcolabamin II.

The most common treatment for this kind of disease is massive parenteral use of vitamin B12 supplements. In most cases, the signs and symptoms of the disease disappear on their own, but sometimes, due to the delay of the diagnosis, the neurological signs and symptoms become permanent. Transcolabamin is the primary transport protein for the vitamin B12 into the patient’s blood. The lack of vitamin B12 affects the cells causing homocystinuria and methyl malonic aciduria. It is very important to treat Transcobalamin II Deficiency in the first stages of development, because if it is not treated properly in time or not treated at all, it can cause severe complications that can interfere in the process of treating, causing the patient’s death.

Transcobalamin II Deficiency Symptoms

When a patient suffers from Transcobalamin II Deficiency, the intracellular deficiency of vitamin B12 usually develops in the first or few months of life, causing a condition called megaloblastic anemia. There are cases in which the patient can also develop certain neurological abnormalities such as pancytopenia. Usually, the most common signs and symptoms that the disease can cause include failure thriving, vomiting, diarrhea, ulcers in the patient’s mouth and certain infections. During the patient’s childhood, patients can also develop certain recurrent bacterial and viral infections that are usually related to neutropenia and hypogammaglobulinemia. In some rarer cases, if Transcobalamin II Deficiency has a prolonged duration of the manifestations, the patient has received inadequate cobalamin treatment, or was first treated with certain folic acid instead of cobalamin, he or she can also experience impaired cognitive development, and neurological sequelae, such as epilepsy and gait disturbance.

There are cases in which the patient can develop other forms of Transcobalamin II Deficiency that can be caused by the production of abnormal bounding protein (the protein is unable to bind vitamin B12 or if is able to bind it but not able to assure the entry of the protein in the patient’s cells). If the disease is not treated properly it can lead to disturbed function of the patient’s two cobalamin enzymes, methylmalonyl coenzymes mutase and methionine synthase. It is very important to treat the disease properly, because if it is not treated early it can lead to serious complications that affect the patient’s quality of life.

Transcobalamin II Deficiency Treatment

Generally, certain malfunctions of the early steps of intracellular transit of the cobalamin protein can cause methylmalonic aciduria, a condition that can be diagnosed by applying gas chromatography mass spectrometry. Transcobalamin II Deficiency can also cause homocystinuria, a condition that can be detected by applying a procedure called ion exchange chromatotherapy in combination with ninydrin derivatization. The diagnosis of this kind of disease is usually established by confirming the absence of radioimmunoassay particles or the inability of cultured fibroblasts to synthesize the cobalamin protein. Usually, there is no prenatal diagnosis for this kind of disease. In most cases, when the treatment for Transcobalamin II Deficiency is given in the early stages, especially the treatment consisting in prenteral vitamin B12, particularly on the patient’s clinical and biological signs, the expectations are high.

There are cases in which the treatment can reverse the clinical and hematological manifestations during the disease’s evolution. The most common medicine used to treat Transcobalamin II Deficiency is Cyanokit. Usually, the medicine has to be administered immediately in cases when the patient experiences certain allergic reactions such as hives, swelling of the patient’s face, difficulty breathing, swelling of the lips, tongue and throat. In most cases, after starting the treatment with Cyanokit, patients begin to develop a skin rash that it can clear on its own in less than two weeks. It is very important for the doctors to know if the patient is taking this kind of medicine, because it can easily affect the results of certain tests. Generally, Cyanokit is an artificial form of the B12 vitamin and can also be used as an antidote in patients who are suffering from cyanide poisoning. The medicine helps the patient cells to convert cyanide into a form that can be more easily eliminated from the body as urine.

The cyanide poisoning usually develops if the patient is exposed to smoke from a house or industrial fire, or if the patient swallowed cyanide. It is very important for the doctor to know exactly what other conditions the patient is suffering from before administrating any type of treatment. The medicine is not recommended to be applied if the patient presents high blood pressure, heart disease, and congestive heart failure. Cyanokit can easily affect an unborn baby so it is important for the patient to let know the doctor if she plans to become pregnant during the treatment. In treating Transcobalamin II Deficiency the medicine is usually administered using an injection through a needle placed into the patient’s vein. It must be given slowly through intravenously infusion; it usually takes at least fifteen minutes to complete. It is very important to know what are the first signs and symptoms of Transcobalamin II Deficiency to effectively administer the available treatment. The most common side effects that can be experienced by the patient after taking the treatment with Cyanokit can include increased blood pressure, severe headache, trouble concentration, chest pain, blurred vision, seizure, red blood into the patient’s stool and swelling of the patient’s hands or feet.