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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Enregistré dans:
Détails bibliographiques
Publié dans:Mol Genet Metab Rep
Auteurs principaux: Romero, Jacqueline A., Abdelmoumen, Imane, Hasbani, Daphne, Khurana, Divya S., Schneider, Michael C.
Format: Artigo
Langue:Inglês
Publié: Elsevier 2019
Sujets:
Short Communication
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6895676/
https://ncbi.nlm.nih.gov/pubmed/31844630
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100545
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