Sign in
Back
Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency
Journal article   Open access  Peer reviewed

Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency

Nada Aljassim, Majid Alfadhel, Marwan Nashabat and Wafa Eyaid
Molecular genetics and metabolism reports, Vol.25, p.100644
01/12/2020
DOI: https://doi.org/10.1016/j.ymgmr.2020.100644
PMID: 32939339

Abstract

Apnea Homocysteine (HYC) Hydrocephalus Methylenetetrahydrofolate reductase (MTHFR)
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.
url
https://doi.org/10.1016/j.ymgmr.2020.100644View
Published (Version of record) Open

Metrics

1 Record Views

Details