Charlotte M A Lubout1, Susanna M I Goorden2, Karin van den Hurk3, Bregje Jaeger4, Nynke G L Jager5, Silvana van Koningsbruggen6, Malika Chegary7, Clara D M van Karnebeek8. 1. Department of Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam Gastro-Enterology & Metabolism Research Institute, Amsterdam University Medical Centres, Amsterdam, The Netherlands. 2. Department of Clinical Chemistry, Laboratory of Genetic Metabolic Diseases, Amsterdam University Medical Centres, Amsterdam, The Netherlands. 3. Department of Clinical Chemistry, OLVG Lab BV, Amsterdam, The Netherlands. 4. Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam University Medical Centres, Amsterdam, The Netherlands. 5. Department of Clinical Pharmacology and Pharmacy, Amsterdam University Medical Centres, Amsterdam, The Netherlands. 6. Department of Clinical Genetics, Amsterdam University Medical Centres, Amsterdam, The Netherlands. 7. Department of Pediatrics, OLVG, Amsterdam, The Netherlands. 8. Department of Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam Gastro-Enterology & Metabolism Research Institute, Amsterdam University Medical Centres, Amsterdam, The Netherlands; Department of Clinical Genetics, Amsterdam University Medical Centres, Amsterdam, The Netherlands. Electronic address: c.d.vankarnebeek@amsterdamumc.nl.
Abstract
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.
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.
Authors: Eva M M Hoytema van Konijnenburg; Saskia B Wortmann; Marina J Koelewijn; Laura A Tseng; Roderick Houben; Sylvia Stöckler-Ipsiroglu; Carlos R Ferreira; Clara D M van Karnebeek Journal: Orphanet J Rare Dis Date: 2021-04-12 Impact factor: 4.123
Authors: Fajr M A Sarhan; Afnan W M Jobran; Islam I A Mansour; Osama N Dukmak; Mohammed A M Rashed; Dina M A Hamdan; Israa A A Abdalhadi Journal: Ann Med Surg (Lond) Date: 2022-07-31