Imerslund-Grasbeck syndrome type 1

Imerslund-Grasbeck syndrome type 1 is a rare genetic disorder that typically appears in infancy or early childhood. It is mainly characterized by megaloblastic anemia caused by low levels of vitamin B12, as well as mild or subclinical low molecular weight proteinuria. People with this condition may experience a range of symptoms that can affect their overall well-being. The condition is inherited in an autosomal recessive manner and is linked to issues with vitamin B12 absorption. While many patients show signs like fatigue, loss of appetite, and failure to thrive, some may later develop neurological problems related to the vitamin B12 deficiency. This summary is based on definitions that highlight these key features of the disorder.

Common symptoms include failure to thrive, loss of appetite, fatigue, lethargy, and recurrent infections. Some people may also experience neurological issues such as sensorimotor neuropathy or cognitive disturbances, which are related to the deficiency in vitamin B12.

The condition is caused by a genetic defect inherited in an autosomal recessive pattern. Changes related to the CUBN gene affect the absorption of vitamin B12, leading to the development of the disorder.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.