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Journal article
A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia
Molecular genetics and metabolism reports, v 21, pp 100545-100545
21 Nov 2019
PMID: 31844630
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
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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Details
- Title
- A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia
- Creators
- Jacqueline A. Romero - St. Christopher's Hospital for ChildrenImane Abdelmoumen - St. Christopher's Hospital for ChildrenDaphne Hasbani - St. Christopher's Hospital for ChildrenDivya S. Khurana - St. Christopher's Hospital for ChildrenMichael C. Schneider - St. Christopher's Hospital for Children
- Publication Details
- Molecular genetics and metabolism reports, v 21, pp 100545-100545
- Publisher
- Elsevier
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pediatrics
- Web of Science ID
- WOS:000500718300027
- Scopus ID
- 2-s2.0-85075193057
- Other Identifier
- 991019168017504721
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- Web of Science research areas
- Genetics & Heredity