Imerslund-Grasbeck syndrome

Imerslund-Grasbeck syndrome is a rare condition that affects the body’s ability to absorb vitamin B12. This syndrome is inherited in an autosomal recessive pattern and usually presents in childhood. People with this condition commonly experience a vitamin B12 deficiency, which can lead to a type of anemia known as megaloblastic anemia. Megaloblastic anemia occurs when the body does not produce enough healthy red blood cells. The condition is responsive to treatment with parenteral vitamin B12, which means that vitamin B12 injections can help manage the symptoms effectively.

People with Imerslund-Grasbeck syndrome often show signs of vitamin B12 deficiency, including megaloblastic anemia. This type of anemia may cause tiredness, weakness, and pale skin. There can also be protein in the urine, as highlighted by the alternative name 'selective cobalamin malabsorption with proteinuria'.

Imerslund-Grasbeck syndrome is caused by an inherited defect that affects vitamin B12 absorption. It is passed down through families in an autosomal recessive pattern, meaning that a child needs to inherit two copies of the faulty gene to develop the condition. This genetic issue interferes with the body’s ability to absorb vitamin B12 properly from food.

The condition is known to respond well to treatment with parenteral vitamin B12. Regular injections of vitamin B12 are used to manage the vitamin deficiency and help alleviate the anemia.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.