Unknown

Dataset Information

0

Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency.

ABSTRACT: Methylenetetrahydrofolate reductase deficiency; MTHFR (MIM 236250) is widely studied with more than 200 reported cases up to our knowledge from pediatrics to adult patients. Clinical presentation of MTHFR deficiency has a wide spectrum and its severity correlates with the degree of the enzyme activity. We report here seven pediatric cases with variable presentations including apnea at early infancy, in addition to hydrocephalus that needed drainage.

SUBMITTER: Aljassim N 

PROVIDER: S-EPMC7479436 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency.

Aljassim Nada N   Alfadhel Majid M   Nashabat Marwan M   Eyaid Wafa W  

Molecular genetics and metabolism reports 20200902

Methylenetetrahydrofolate reductase deficiency; MTHFR (MIM 236250) is widely studied with more than 200 reported cases up to our knowledge from pediatrics to adult patients. Clinical presentation of MTHFR deficiency has a wide spectrum and its severity correlates with the degree of the enzyme activity. We report here seven pediatric cases with variable presentations including apnea at early infancy, in addition to hydrocephalus that needed drainage. ...[more]

Similar Datasets

Unknown Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.
| S-EPMC1801446 | biostudies-other
Unknown Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
| S-EPMC6551224 | biostudies-literature
Unknown Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
| S-EPMC3124345 | biostudies-literature
Unknown Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.
| S-EPMC4394698 | biostudies-literature
Unknown Valproic acid increases expression of methylenetetrahydrofolate reductase (MTHFR) and induces lower teratogenicity in MTHFR deficiency.
| S-EPMC2574752 | biostudies-literature
Unknown Human methylenetetrahydrofolate reductase plus SAM
| EMPIAR-11926 | biostudies-other
Unknown Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and FOLFOX response in colorectal cancer patients.
| S-EPMC2830598 | biostudies-literature
Unknown Regulation of human methylenetetrahydrofolate reductase by phosphorylation.
| S-EPMC1180802 | biostudies-literature
Unknown Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants.
| S-EPMC7203652 | biostudies-literature
Unknown A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency.
| S-EPMC6491806 | biostudies-literature