Child Neurology: Hereditary Folate Malabsorption

Hereditary folate malabsorption (HFM, congenital malabsorption; OMIM#229050) is a rare, potentially treatable autosomal recessive disorder with multisystem involvement.1 It caused by homozygous or compound heterozygous mutations in SLC46A1 resulting loss of function proton-coupled transporter (PCFT),2 required for intestinal absorption and transport across choroid plexus.1,2 This leads to the deficiency serum CSF, causing hematologic, immunologic, gastrointestinal, neurologic manifestations.1 Neuroimaging shows intracranial calcification.3 Diagnosis confirmed impaired an oral load, low CSF concentration (even after correction concentration), identification pathogenic variants on molecular genetic testing.1 We describe clinical, imaging, biochemical, findings patient HFM.