eprintid: 10068437
rev_number: 26
eprint_status: archive
userid: 608
dir: disk0/10/06/84/37
datestamp: 2019-02-19 14:19:54
lastmod: 2021-12-01 23:30:22
status_changed: 2019-02-19 14:19:54
type: article
metadata_visibility: show
creators_name: Manea, E
creators_name: Gissen, P
creators_name: Pope, S
creators_name: Heales, SJ
creators_name: Batzios, S
title: Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases
ispublished: pub
subjects: GOSH
subjects: UCH
divisions: UCL
divisions: B02
divisions: C07
divisions: D07
divisions: F86
divisions: D13
divisions: G23
keywords: CSF 5-MTHF, Hereditary folate malabsorption, Intramuscular, Levofolinic acid, Treatment
note: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
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.
date: 2018
date_type: published
official_url: https://doi.org/10.1007/8904_2017_39
oa_status: green
full_text_type: other
pmcid: PMC5953899
language: eng
primo: open
primo_central: open_green
article_type_text: Journal Article
verified: verified_manual
elements_id: 1621268
doi: 10.1007/8904_2017_39
lyricists_name: Gissen, Paul
lyricists_name: Heales, Simon
lyricists_name: Pope, Simon
lyricists_id: PGISS10
lyricists_id: SJRHE78
lyricists_id: SASPO88
actors_name: Novi, Maya
actors_id: MNOVI52
actors_role: owner
full_text_status: public
publication: JIMD Reports
volume: 39
pagerange: 7-12
event_location: United States
issn: 2192-8304
citation:        Manea, E;    Gissen, P;    Pope, S;    Heales, SJ;    Batzios, S;      (2018)    Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases.                   JIMD Reports , 39    pp. 7-12.    10.1007/8904_2017_39 <https://doi.org/10.1007/8904_2017_39>.       Green open access   
 
document_url: https://discovery.ucl.ac.uk/id/eprint/10068437/1/Gissen_Role%20of%20intramuscular%20levofolinate%20%20in%20treatment%20of%20Hereditary%20folate%20malabsorption.pdf