Child Neurology: Hereditary Folate Malabsorption

Neurology. 2021 Jul 6;97(1):40-43. doi: 10.1212/WNL.0000000000012083. Epub 2021 Apr 23.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Consanguinity
  • Female
  • Folic Acid / cerebrospinal fluid
  • Folic Acid / metabolism
  • Folic Acid / therapeutic use
  • Folic Acid Deficiency / diagnosis
  • Folic Acid Deficiency / genetics*
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Malabsorption Syndromes / diagnosis
  • Malabsorption Syndromes / genetics*
  • Microcephaly / genetics
  • Neurologic Examination
  • Proton-Coupled Folate Transporter / genetics
  • Seizures / etiology
  • Tomography, X-Ray Computed
  • Treatment Outcome

Substances

  • Proton-Coupled Folate Transporter
  • SLC46A1 protein, human
  • Folic Acid

Supplementary concepts

  • Folate Malabsorption, Hereditary