Treatable Intellectual Disability

Imerslund Gräsbeck Syndrome

DIAGNOSIS

Gene
CUBN & AMN (AR)

Diagnostic Test
Plasma Vitamin B12, Folate

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SIGNS & SYMPTOMS

Neurological
Ataxia, dystonia

Non-Neurological
Proteinuria, megaloblastic anemia

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THERAPY

Treatment
HydroxyCobalamin

Level of Evidence
4

Clinical Practice
Standard of Care

Treatment Effect
Improves psychomotor development/IQ,
neurological & systemic manifestations



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Imerslund Grasbeck Syndrome

Imerslund Gräsbeck Syndrome

Imerslund-Grasbeck syndrome (IGS) is caused by a defective transport of cobalamin by enterocytes. it is characterized by prominent megaloblastic anemia and proteinuria. Various degrees of developmental delay and neurological abnormalities such as spasticity, ataxia and cerebellar atrophy are caused by chronic cobalamin depletion.

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