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Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defects

Whitehouse, Abigail; Rehsi, Preeya; Hartley, Louise; Grunewald, Stephanie; Yilmaz, Berna Seker; Pegoretti Baruteau, Kelly; Yaman, Ayhan; ... Baruteau, Julien; + view all (2023) Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defects. JIMD Reports , 64 (4) pp. 274-281. 10.1002/jmd2.12375. Green open access

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Abstract

Isolated remethylation defects are rare inherited diseases caused by a defective remethylation of homocysteine to methionine, preventing various essential methylation reactions to occur. Patients present with a systemic phenotype, which can especially affect the central and peripheral nervous systems leading to epileptic encephalopathy, developmental delay and peripheral neuropathy. Respiratory failure has been described in some cases, caused by both central and peripheral neurological involvement. In published cases, the genetic diagnosis and initiation of appropriate therapy were rapidly performed following respiratory failure and led to a rapid recovery of respiratory insufficiency within days. Here, we present two infantile-onset cases of isolated remethylation defects, cobalamine (Cbl)G and methylenetetrahydrofolate reductase (MTHFR) deficiencies, which were diagnosed after several months of respiratory failure. Disease modifying therapy based on hydroxocobalamin and betaine was initiated and shows a progressive improvement and enabled weaning off respiratory support after 21 and 17 months in CblG and MTHFR patients respectively. We show that prolonged respiratory failure responds to conventional therapy in isolated remethylation defects, but can require a sustained period of time before observing a full response to therapy.

Type: Article
Title: Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defects
Open access status: An open access version is available from UCL Discovery
DOI: 10.1002/jmd2.12375
Publisher version: https://doi.org/10.1002/jmd2.12375
Language: English
Additional information: © 2023 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM. This is an open access article under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/).
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10172633
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