TY - JOUR
T1 - Successful Treatment of Hereditary Folate Malabsorption With Intramuscular Folinic Acid
AU - Lubout, Charlotte M. A.
AU - Goorden, Susanna M. I.
AU - van den Hurk, K.
AU - Jaeger, Bregje
AU - Jager, Nynke G. L.
AU - van Koningsbruggen, Silvana
AU - Chegary, Malika
AU - van Karnebeek, Clara D. M.
N1 - Funding Information: We are grateful to the patient and family for their participation, and the clinical and laboratory colleagues involved in the management of this patient. We acknowledge that Dr. Goldman and his team, Department of Pharmacology and Department of Medicine, Albert Einstein College of Medicine, Bronx, NY, made for the functional studies on the found variant. Publisher Copyright: © 2019 Elsevier Inc. Copyright: Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2020/1
Y1 - 2020/1
N2 - Background: 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. Methods: 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. Results: 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. Conclusion: Normal cerebrospinal fluid folate levels can be achieved in individuals with hereditary folate malabsorption with intramuscular (but not with oral) administration of folinic acid.
AB - Background: 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. Methods: 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. Results: 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. Conclusion: Normal cerebrospinal fluid folate levels can be achieved in individuals with hereditary folate malabsorption with intramuscular (but not with oral) administration of folinic acid.
KW - Cerebral folate deficiency
KW - Folates
KW - Folinic acid
KW - Hereditary folate malabsorption
UR - http://www.scopus.com/inward/record.url?scp=85069810546&partnerID=8YFLogxK
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85069810546&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/31371121
U2 - https://doi.org/10.1016/j.pediatrneurol.2019.06.009
DO - https://doi.org/10.1016/j.pediatrneurol.2019.06.009
M3 - Article
C2 - 31371121
SN - 0887-8994
VL - 102
SP - 62
EP - 66
JO - Pediatric neurology
JF - Pediatric neurology
ER -