Successful Treatment of Hereditary Folate Malabsorption With Intramuscular Folinic Acid

Pediatric Neurology
Charlotte M A LuboutClara D M van Karnebeek

Abstract

Hereditary folate malabsorption is a multisystem disease owing to biallelic variants in the gene encoding the proton-coupled folate transporter. Hereditary folate malabsorption is treated with folinic acid, aimed to restore blood and cerebrospinal fluid folate levels. Little is known as to whether oral or intramuscular supplementation of folinic acid is most effective. Here we describe a one-year-old boy with hereditary folate malabsorption presenting with the typical features including failure to thrive, aphthous stomatitis, macrocytic anemia along with severe developmental impairment and epilepsy, as well as a magnetic resonance imaging of the brain showing bilateral occipital, cortical calcifications characteristic of hereditary folate malabsorption. We compared the effect of treatment with oral folinic acid versus intramuscular folinic acid supplementation by measuring plasma and cerebrospinal fluid folate levels. Compared with oral administration, intramuscular treatment resulted in higher folate levels in blood and, most importantly, normalization of folate levels in cerebrospinal fluid. Clinically, nearly all systemic and neurological symptoms resolved. Normal cerebrospinal fluid folate levels can be achieved in individu...Continue Reading

Citations

Apr 14, 2021·Orphanet Journal of Rare Diseases·Eva M M Hoytema van KonijnenburgClara D M van Karnebeek
Apr 25, 2021·Neurology·Akshata HuddarBindu Parayil Sankaran
Sep 17, 2021·Pediatrics International : Official Journal of the Japan Pediatric Society·Ryoji KobayashiKunihiko Kobayashi

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