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Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases

  • Emanuela Manea
  • Paul Gissen
  • Simon Pope
  • Simon J. Heales
  • Spyros Batzios
Research Report
Part of the JIMD Reports book series (JIMD, volume 39)

Abstract

Hereditary folate malabsorption is a rare autosomal recessive disorder caused by impaired active folate transport across membranes and into the central nervous system due to loss-of-function mutations in proton-coupled folate transporter (PCFT). Newborns with this condition have initially normal folate stores, but as they are unable to absorb dietary folate and use rapidly their stores because of their growth demands, symptoms appear in the early infancy. Significant neurological morbidity usually follows the initial non-specific clinical presentation and delayed initiation of treatment. High dose oral and parenteral folinic acid treatment have been previously reported in literature to improve the clinical outcome without achieving optimal cerebrospinal fluid (CSF) folate levels though. The active isomer of 5-formyltetrahydrofolate, also known as levofolinic acid, is available for administration. We report our experience in achieving normal (age dependent) CSF 5-Methyltetrahydrofolate (5-MTHF) levels following daily intramuscular administration of levofolinic acid in three patients with HFM. Follow-up assessment with repeated lumbar punctures has shown a stabilization of 5-MTHF levels within normal range. Clinical features and brain MRI findings had as well either improvement or stabilization. To the best of our knowledge, we provide as well for the first time data in regard to the im levofolinate treatment dosage.

Keywords

CSF 5-MTHF Hereditary folate malabsorption Intramuscular Levofolinic acid Treatment 

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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2017

Authors and Affiliations

  • Emanuela Manea
    • 1
  • Paul Gissen
    • 1
  • Simon Pope
    • 2
  • Simon J. Heales
    • 2
    • 3
  • Spyros Batzios
    • 1
  1. 1.Department of Paediatric Metabolic MedicineGreat Ormond Street HospitalLondonUK
  2. 2.Neurometabolic UnitNational Hospital for Neurology and NeurosurgeryLondonUK
  3. 3.Department of Chemical PathologyGreat Ormond Street HospitalLondonUK

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