Folate malabsorption syndrome

Also known as: Hereditary folate malabsorption

Megaloblastic anemia and neurologic problems from impaired intestinal folate absorption.

Medical specialty: Hematology
Subspecialty: Hematology / Metabolic hematology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: SLC46A1

Etiology & mechanism

PCFT deficiency.

Gene(s) involved (1)

SLC46A1

Symptoms & signs (5)

developmental delaydiarrheaimmunodeficiencymegaloblastic anemiaseizures

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.