Imerslund-Grasbeck syndrome type 2
MONDO:0100157An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF).
Also known as: Imerslund-Grasbeck syndrome 2, megaloblastic anemia, Norwegian type
20 clinical trials for this condition and its sub-types, 0 tagged with Imerslund-Grasbeck syndrome type 2 itself.
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A simple drink may help seniors rebuild strength after illness
Disease control Not yet recruitingThis trial tests whether adding a twice-daily nutritional drink to standard care helps adults aged 55 and older regain weight and muscle strength after being hospitalized for an acute illness. Participants are at risk of malnutrition and have low grip strength. Half receive the d…
Sponsor: Abbott Nutrition • Aim: Disease control
Last updated Aug 09, 2026 00:00 UTC
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Could a simple packaging change help more children get the nutrients they need?
Disease control Not yet recruitingThis study tests whether giving caregivers a weekly bulk container (7-day supply) versus daily single-use sachets (1-day supply) of a nutrient supplement improves how much children actually consume. About 500 caregivers of children aged 6-24 months in northern Ghana will try both…
Sponsor: Boston University Charles River Campus • Aim: Disease control
Last updated Jul 12, 2026 00:00 UTC
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Smartwatch signals may flag anemia, no needle needed
Diagnosis Not yet recruitingAnemia often goes unnoticed because diagnosis requires a blood draw. This study tests whether a wrist-worn smartwatch can identify people likely to have anemia by tracking blood flow, heart rate, oxygen, and movement. About 400 adults, with and without anemia, will wear the watch…
Sponsor: Peking Union Medical College Hospital • Aim: Diagnosis
Last updated Sep 03, 2026 00:00 UTC
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Could a painless light sensor replace the needle for anemia screening?
Diagnosis Not yet recruitingThis study tests whether a non-invasive device that uses light to measure hemoglobin through the skin can accurately detect anemia. Researchers will compare its readings with standard blood tests in 150 adults in Jakarta. If the device proves reliable, it could offer a quick, pai…
Sponsor: Tarumanagara University • Aim: Diagnosis
Last updated Jul 17, 2026 00:00 UTC
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Hidden gut parasites could be making malnourished kids sicker
Knowledge-focused Not yet recruitingThis study in Assiut, Egypt, will check 116 children aged 2-15 for intestinal parasites to see if these infections are more common in malnourished kids compared to healthy ones. The goal is to understand how parasites like Giardia and hookworms might cause or worsen malnutrition …
Sponsor: Assiut University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:01 UTC