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(D51.2) Transcobalamin ii deficiency
More details coming soon
791 562 in individuals diagnosis transcobalamin ii deficiency confirmed
6 290 deaths with diagnosis transcobalamin ii deficiency
1% mortality rate associated with the disease transcobalamin ii deficiency
Diagnosis transcobalamin ii deficiency is diagnosed Women are 19.35% more likely than Men
319 194
Men receive the diagnosis transcobalamin ii deficiency
2 592 (0.8 %)Died from this diagnosis.
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472 368
Women receive the diagnosis transcobalamin ii deficiency
3 698 (0.8 %)Died from this diagnosis.
Risk Group for the Disease transcobalamin ii deficiency - Men aged 75-79 and Women aged 80-84
In Men diagnosis is most often set at age 0-1, 5-95+
Less common in men the disease occurs at Age 0-5Less common in women the disease occurs at Age 5-14
In Women diagnosis is most often set at age 0-5, 15-95+
Disease Features transcobalamin ii deficiency
Absence or low individual and public risk
Transcobalamin ii deficiency - what does this mean
Transcobalamin ii deficiency is a rare genetic disorder caused by a mutation in the tcn2 gene, which is responsible for producing the transcobalamin ii protein. this protein is essential for the absorption and transport of vitamin b12, and its deficiency leads to a decrease in the amount of b12 available for the body to use, resulting in anemia, fatigue, and neurological symptoms.
What happens during the disease - transcobalamin ii deficiency
Transcobalamin ii deficiency is caused by a mutation in the tcn2 gene, which is responsible for producing transcobalamin ii, a protein involved in the transport of vitamin b12. this mutation leads to a decrease in the amount of transcobalamin ii, resulting in a deficiency of vitamin b12, which can lead to a variety of symptoms, including anemia, fatigue, neurological issues, and a weakened immune system.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Complete Blood Count (CBC) to detect anemia
- Serum vitamin B12 level
- Methylmalonic acid (MMA) level
- Homocysteine level
- Transcobalamin II level
- Genetic testing to detect mutations in the TCN2 gene
Treatment and Medical Assistance
Main goal of the treatment: To replace the missing transcobalamin II protein and to maintain adequate levels of vitamin B12 in the body.
- Prescribe vitamin B12 supplements
- Monitor B12 levels in the blood
- Monitor for any signs of anemia
- Prescribe folic acid supplements
- Monitor for any signs of neurological problems
- Prescribe a diet high in B12-rich foods
- Encourage the patient to exercise regularly
- Provide lifestyle modifications to reduce stress
- Refer to a specialist if needed
18 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Transcobalamin ii deficiency - Prevention
Transcobalamin ii deficiency can be prevented by ensuring adequate intake of food sources that are rich in vitamin b12, such as poultry, eggs, fish, milk, and dairy products, as well as taking a vitamin b12 supplement. additionally, it is important to have regular blood tests to monitor the levels of vitamin b12 in the body.