Novel MTR compound-heterozygous mutations in a Chinese girl with HHcy due to methionine synthase deficiency, cblG: a case report

Novel MTR compound-heterozygous mutations in a Chinese girl with HHcy due to methionine synthase deficiency, cblG: a case report

Abstract Background The methylcobalamin deficiency G (cblG) disorder, a rare autosomal recessive disease, is attributed to mutations in the MTR gene, resulting in heightened homocysteine levels and reduced methionine and megaloblastic anemia levels. This disease is predominantly diagnosed using MTR...

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Détails bibliographiques
Auteurs principaux: Juan Luo, Xiaohong Chen, Hongxi Guo, Peiwei Zhao, Hui Yao, Lifang Feng, Luhong Yang
Format: Article
Langue:English
Publié: SpringerOpen 2024-01-01
Collection:Egyptian Journal of Medical Human Genetics
Sujets:
MTR gene
Hyperhomocysteinemia (HHcy)
Methylcobalamin deficiency G (cblG) disorder
Methionine synthase (MS)
Whole-exome sequencing (WES)
Accès en ligne:https://doi.org/10.1186/s43042-023-00469-z

Internet

https://doi.org/10.1186/s43042-023-00469-z

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