Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency

Nada Aljassim, MD, FCCP; Majid Alfadhel, MD, MHSc, SSC-Ped, ABHS(CH), FCCMG; Marwan Nashabat, MD; Wafa Eyaid, MD, FACMG

Molecular Genetics and Metabolism Reports (Dec 2020)

Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency

Nada Aljassim, MD, FCCP,
Majid Alfadhel, MD, MHSc, SSC-Ped, ABHS(CH), FCCMG,
Marwan Nashabat, MD,
Wafa Eyaid, MD, FACMG

Affiliations

Nada Aljassim, MD, FCCP: Department of Pediatric Critical Care, Critical Care Center, King Fahad Medical City, Riyadh, Saudi Arabia
Majid Alfadhel, MD, MHSc, SSC-Ped, ABHS(CH), FCCMG: 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.
Marwan Nashabat, MD: 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.
Wafa Eyaid, MD, FACMG: 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.; Corresponding Author: Dr. Wafaa Eyaid, M.D, FACMG Consultant Genetics & Endocrinology Department of pediatrics 1015. King Abdul Aziz Medical City. Riyadh 11426 P.O Box 22490. Saudi Arabia.

Journal volume & issue: Vol. 25
p. 100644

Abstract

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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.

Published in Molecular Genetics and Metabolism Reports

ISSN: 2214-4269 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Medicine (General); Science: Biology (General)
Website: http://www.journals.elsevier.com/molecular-genetics-and-metabolism-reports/

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Abstract

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