Transcobalamin II deficiency
ICD-10 D51.2 is a billable code used to indicate a diagnosis of transcobalamin ii deficiency.
Transcobalamin II deficiency is a rare inherited disorder characterized by the inability to transport vitamin B12 (cobalamin) in the body due to a defect in transcobalamin II, a protein responsible for the cellular uptake of vitamin B12. This deficiency leads to a functional vitamin B12 deficiency, resulting in megaloblastic anemia, neurological symptoms, and impaired DNA synthesis. Patients may present with symptoms such as fatigue, pallor, weakness, and neurological deficits including peripheral neuropathy and cognitive disturbances. Diagnosis is typically confirmed through laboratory tests showing low serum vitamin B12 levels, elevated methylmalonic acid, and homocysteine levels. Treatment involves lifelong vitamin B12 supplementation, often administered via intramuscular injections, to bypass the transport defect and ensure adequate cellular uptake. Regular monitoring of vitamin B12 levels and hematological parameters is essential to manage the condition effectively.
Detailed lab results, clinical history, and treatment plans.
Diagnosis and management of megaloblastic anemia, monitoring of vitamin B12 levels.
Ensure accurate documentation of the patient's response to treatment and any neurological assessments.
Genetic testing results and family history.
Evaluation of hereditary conditions affecting vitamin B12 metabolism.
Documentation of genetic counseling provided to the patient and family.
Used to evaluate anemia in patients suspected of having transcobalamin II deficiency.
Document the reason for the CBC and any relevant clinical findings.
Hematology specialists should ensure that all relevant lab results are included in the patient's record.
Symptoms may include fatigue, weakness, pallor, neurological issues such as numbness or tingling, and developmental delays in children.
Diagnosis is made through laboratory tests showing low vitamin B12 levels, elevated methylmalonic acid, and homocysteine levels, along with clinical symptoms.
Treatment typically involves lifelong vitamin B12 supplementation, often administered via intramuscular injections, to ensure adequate cellular uptake.
