Treatable Intellectual Disability

Congenital Intrinsic Factor Deficiency

BIOCHEMICAL DEFICIENCY

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DIAGNOSIS

Gene
GIF (AR)

Diagnostic Test
Plasma Vitamin B12, Folate

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SIGNS & SYMPTOMS

Neurological
Ataxia, dystonia

Non-Neurological
Megaloblastic anemia, pancytopenia

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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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Congenital Intrinsic Factor Deficiency

The absence or afunctional status of Intrinsic Factor causes symptoms usually between 1-5 years of age: megaloblastic anemia, failure to thrive, vomiting, diarrhea and developmental delay often with myelopathy or peripheral neuropathy. Early treatment can reverse systemic and neurologic features.

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