Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency

Nada Aljassim; Majid Alfadhel; Marwan Nashabat; Wafa Eyaid

doi:10.1016/j.ymgmr.2020.100644

Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency

Mol Genet Metab Rep. 2020 Sep 2:25:100644. doi: 10.1016/j.ymgmr.2020.100644. eCollection 2020 Dec.

Authors

Nada Aljassim¹, Majid Alfadhel², Marwan Nashabat², Wafa Eyaid²

Affiliations

¹ Department of Pediatric Critical Care, Critical Care Center, King Fahad Medical City, Riyadh, Saudi Arabia.
² King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.

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.

Keywords: Apnea; Homocysteine (HYC); Hydrocephalus; Methylenetetrahydrofolate reductase (MTHFR).

Publication types

Case Reports