Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency

被引：6

作者：

Aljassim, Nada ^{[1
]}

Alfadhel, Majid ^{[2
]}

Nashabat, Marwan ^{[2
]}

Eyaid, Wafa ^{[2
]}

机构：

[1] King Fahad Med City, Dept Pediat Crit Care, Crit Care Ctr, Riyadh, Saudi Arabia

[2] King Saud bin Abdulaziz Univ Hlth Sci, King Abdullah Int Med Res Ctr, Dept Pediat,King Abdulaziz Med City, Div Genet,Minist Natl Guard Hlth Affairs NGHA, Riyadh, Saudi Arabia

来源：

MOLECULAR GENETICS AND METABOLISM REPORTS | 2020年 / 25卷

关键词：

Apnea; Homocysteine (HYC); Hydrocephalus; Methylenetetrahydrofolate reductase (MTHFR); HOMOCYSTINURIA;

D O I：

10.1016/j.ymgmr.2020.100644

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页数：5

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