congenital intrinsic factor deficiency

info · Genetic

A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption.

Signs and symptoms

Decreased circulating haptoglobin concentration
Malabsorption of Vitamin B12
Increased RBC distribution width
Decreased circulating vitamin B12 concentration
Megaloblastic anemia
Increased circulating lactate dehydrogenase concentration
Absence of intrinsic factor
Paresthesia
Somatic sensory dysfunction
Increased mean corpuscular volume

Also known as: hereditary intrinsic factor deficiency