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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...
Shranjeno v:
| izdano v: | Mol Genet Metab Rep |
|---|---|
| Main Authors: | , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Elsevier
2019
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| Teme: | |
| Online dostop: | 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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