Cobalamin E disease with a novel homozygous MTRR mutation as a cobalamin-related remethylation disorder: a treatable etiology in West syndrome-Reference-Cited by-同舟云学术

Cobalamin E disease with a novel homozygous MTRR mutation as a cobalamin-related remethylation disorder: a treatable etiology in West syndrome

Published:2022-02 Issue:1 Volume:122 Page:255-256
ISSN:0300-9009
Container-title:Acta Neurologica Belgica
language:en
Short-container-title:Acta Neurol Belg

Author:

Aksu Uzunhan Tuğçe^ORCID,Uyanık Bülent^ORCID,Ersoy Melike^ORCID,Türkmenoğlu Yelda^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s13760-022-01885-5.pdf

Reference5 articles.

1. Huemer M, Diodato D, Schwahn B et al (2017) Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. J Inherit Metab Dis 40(1):21–48. https://doi.org/10.1007/s10545-016-9991-4

2. Sloan JL, Carrillo N, Adams D, Venditti CP (2018) Disorders of Intracellular Cobalamin Metabolism. GeneReviews®. Published online September 6, 2018. https://www.ncbi.nlm.nih.gov/books/NBK1328/. Accessed 18 Nov 2021

3. Huemer M, Bürer C, Ješina P et al (2015) Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data. J Inherit Metab Dis 38(5):957–967. https://doi.org/10.1007/S10545-014-9803-7

4. Gowda VK, Srinivasan VM, Reddy V, Saini J, Bhat M (2021) A Treatable cause of global developmental delay with epileptic spasm and delayed myelination due to cobalamin-related remethylation disorder. Indian J Pediatr 88(11):1156–1157. https://doi.org/10.1007/S12098-021-03901-7

5. Wong D, Tortorelli S, Bishop L et al (2016) Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening. Genet Med 18(2):162–167. https://doi.org/10.1038/GIM.2015.45

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