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...

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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
Descripción
Sumario: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.

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