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

Acta Neurol Belg. 2022 Feb;122(1):255-256. doi: 10.1007/s13760-022-01885-5. Epub 2022 Feb 5.

Authors

Tuğçe Aksu Uzunhan¹, Bülent Uyanık², Melike Ersoy³, Yelda Türkmenoğlu⁴

Affiliations

¹ Department of Pediatric Neurology, Prof Dr. Cemil Taşcıoğlu City Hospital, Darülaceze Cad. No:27 Şişli, İstanbul, Turkey. tugce.aksuuzunhan@saglik.gov.tr.
² Department of Medical Genetics, Bezmialem Vakif University, İstanbul, Turkey.
³ Department of Pediatric Metabolism, Bakırköy Dr. Sadi Konuk Research and Training Hospital, İstanbul, Turkey.
⁴ Department of Pediatrics, Prof Dr. Cemil Taşcıoğlu City Hospital, İstanbul, Turkey.

PMID: 35122617
DOI: 10.1007/s13760-022-01885-5

No abstract available

Publication types

Letter

MeSH terms

Homozygote
Humans
Mutation / genetics
Spasms, Infantile*
Vitamin B 12* / therapeutic use

Substances

Vitamin B 12