A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia
| Autor: | Michael C. Schneider, Daphne M Hasbani, Jacqueline A. Romero, Divya S. Khurana, Imane Abdelmoumen |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Folate
Microcephaly 5-MTHF 5-methyl tetrahydrofolate Short Communication medicine.disease_cause Epilepsy chemistry.chemical_compound Endocrinology Genetics medicine Global developmental delay Cerebral hypomyelination lcsh:QH301-705.5 Molecular Biology Exome sequencing lcsh:R5-920 Mutation business.industry AICARFT phosphoribosylaminoimidazolecarboxamide formyltransferase SHMT serine hydroxymethyltransferase BH4 tetrahydrobiopterin Neopterin SAM S-adenosylmethionine 5-formyl THF 5-formyl tetrahydrofolate MTHFS 5 10-methenyltetrahydrofolate synthetase medicine.disease lcsh:Biology (General) chemistry 5 10-methenyltetrahydrofolate synthetase Immunology MTHFS Macrocytic anemia lcsh:Medicine (General) business |
| Zdroj: | Molecular Genetics and Metabolism Reports Molecular Genetics and Metabolism Reports, Vol 21, Iss, Pp-(2019) |
| ISSN: | 2214-4269 |
| DOI: | 10.1016/j.ymgmr.2019.100545 |
| Popis: | 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. Keywords: 5,10-methenyltetrahydrofolate synthetase, MTHFS, Folate, Cerebral hypomyelination |
| Databáze: | OpenAIRE |
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