A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia

A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia

We describe a case of 5,10-methenyltetrahydrofolate synthetase (MTHFS) deficiency characterized by microcephaly, global developmental delay, epilepsy, and cerebral hypomyelination. Whole exome sequencing (WES) demonstrated homozygosity for the R74X mutation in the MTHFS gene. The patient had the une...

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Bibliographic Details
Main Authors: Jacqueline A. Romero, Imane Abdelmoumen, Daphne Hasbani, Divya S. Khurana, Michael C. Schneider
Format: Article
Language:English
Published: Elsevier 2019-12-01
Series:Molecular Genetics and Metabolism Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426919301429

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http://www.sciencedirect.com/science/article/pii/S2214426919301429

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