Join the RareGuru Community
To connect, share, empower and heal today.
Don’t fight Imerslund-Grasbeck syndrome alone.
Find your community on the free RareGuru App.Imerslund-Grasbeck syndrome (IGS) is a rare condition characterized by vitamin B12 deficiency, often causing megaloblastic anemia. IGS usually appears in childhood. Other features may include failure to thrive, infections, and neurological damage. Mild proteinuria (with no signs of kidney disease) is present in about half of affected individuals. IGS is caused by mutations in either the CUBN _or AMN_ gene and is inherited in an autosomal recessive manner. Treatment includes life-long vitamin B12 injections, with which affected individuals can stay healthy for decades.
Source: GARD Last updated on 05-01-20
Affected individuals often first experience non-specific health problems, such as failure to thrive and grow, recurrent gastrointestinal or respiratory infections, pallor and fatigue. Individuals often have anemia, and about half of affected individuals also have mild proteinuria but no signs of kidney disease. Individuals may also have mild neurological damage. Congenital (present at birth) abnormalities of the urinary tract were present in some of the original reported cases. The age at diagnosis is usually anywhere from a few months of age to about 14 years of age.
Last updated on 05-01-20
We are not aware of reports in the medical literature documenting symptoms of Imerslund-Grasbeck syndrome (IGS) beginning in adulthood. There have been reports of individuals who had symptoms of the condition since childhood, but did not receive the specific diagnosis of IGS until later on. An individual may be diagnosed with another form of anemia and be treated with vitamin B12, which is also used to treat Imerslund-Grasbeck syndrome.
Last updated on 05-01-20
The diagnosis of Imerslund-Grasbeck syndrome (IGS) is made after a series of tests are performed. Cobalamin deficiency is typically detected first, followed by showing that cobalamin is poorly absorbed (the main cause of cobalamin deficiency). Other known causes of vitamin B12 malabsorption must then be ruled out. Lastly, it must be shown that after correcting the deficiency, the only nutrient to be poorly absorbed is vitamin B12. The diagnosis can also be confirmed by having genetic testing of the genes that are known to cause the condition. While the presence of proteinuria is strongly suggestive of IGS, not all affected individuals have proteinuria.
Last updated on 05-01-20
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!
To connect, share, empower and heal today.