Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency

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 activi...

Descripción completa

Detalles Bibliográficos
Autores principales: Aljassim, Nada, Alfadhel, Majid, Nashabat, Marwan, Eyaid, Wafa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7479436/
https://www.ncbi.nlm.nih.gov/pubmed/32939339
http://dx.doi.org/10.1016/j.ymgmr.2020.100644
_version_ 1783580272325820416
author Aljassim, Nada
Alfadhel, Majid
Nashabat, Marwan
Eyaid, Wafa
author_facet Aljassim, Nada
Alfadhel, Majid
Nashabat, Marwan
Eyaid, Wafa
author_sort Aljassim, Nada
collection PubMed
description 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.
format Online
Article
Text
id pubmed-7479436
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher Elsevier
record_format MEDLINE/PubMed
spelling pubmed-74794362020-09-15 Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency Aljassim, Nada Alfadhel, Majid Nashabat, Marwan Eyaid, Wafa Mol Genet Metab Rep Case Report 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. Elsevier 2020-09-02 /pmc/articles/PMC7479436/ /pubmed/32939339 http://dx.doi.org/10.1016/j.ymgmr.2020.100644 Text en © 2020 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Aljassim, Nada
Alfadhel, Majid
Nashabat, Marwan
Eyaid, Wafa
Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency
title Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency
title_full Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency
title_fullStr Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency
title_full_unstemmed Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency
title_short Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency
title_sort clinical presentation of seven patients with methylenetetrahydrofolate reductase deficiency
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7479436/
https://www.ncbi.nlm.nih.gov/pubmed/32939339
http://dx.doi.org/10.1016/j.ymgmr.2020.100644
work_keys_str_mv AT aljassimnada clinicalpresentationofsevenpatientswithmethylenetetrahydrofolatereductasedeficiency
AT alfadhelmajid clinicalpresentationofsevenpatientswithmethylenetetrahydrofolatereductasedeficiency
AT nashabatmarwan clinicalpresentationofsevenpatientswithmethylenetetrahydrofolatereductasedeficiency
AT eyaidwafa clinicalpresentationofsevenpatientswithmethylenetetrahydrofolatereductasedeficiency

Ejemplares similares