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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Autores principales: Romero, Jacqueline A., Abdelmoumen, Imane, Hasbani, Daphne, Khurana, Divya S., Schneider, Michael C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895676/
https://www.ncbi.nlm.nih.gov/pubmed/31844630
http://dx.doi.org/10.1016/j.ymgmr.2019.100545
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author Romero, Jacqueline A.
Abdelmoumen, Imane
Hasbani, Daphne
Khurana, Divya S.
Schneider, Michael C.
author_facet Romero, Jacqueline A.
Abdelmoumen, Imane
Hasbani, Daphne
Khurana, Divya S.
Schneider, Michael C.
author_sort Romero, Jacqueline A.
collection PubMed
description 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 unexpected finding of elevated cerebrospinal fluid (CSF) neopterin. The novel finding of macrocytic anemia in this patient may provide a clue to the diagnosis of this rare neurometabolic disorder.
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spelling pubmed-68956762019-12-16 A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia Romero, Jacqueline A. Abdelmoumen, Imane Hasbani, Daphne Khurana, Divya S. Schneider, Michael C. Mol Genet Metab Rep Short Communication 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 unexpected finding of elevated cerebrospinal fluid (CSF) neopterin. The novel finding of macrocytic anemia in this patient may provide a clue to the diagnosis of this rare neurometabolic disorder. Elsevier 2019-11-21 /pmc/articles/PMC6895676/ /pubmed/31844630 http://dx.doi.org/10.1016/j.ymgmr.2019.100545 Text en © 2019 Published by Elsevier Inc. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Short Communication
Romero, Jacqueline A.
Abdelmoumen, Imane
Hasbani, Daphne
Khurana, Divya S.
Schneider, Michael C.
A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia
title A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia
title_full A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia
title_fullStr A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia
title_full_unstemmed A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia
title_short A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia
title_sort case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895676/
https://www.ncbi.nlm.nih.gov/pubmed/31844630
http://dx.doi.org/10.1016/j.ymgmr.2019.100545
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