Medicine:Methylenetetrahydrofolate dehydrogenase 1 deficiency
From HandWiki
Short description: Genetic disease
Methylenetetrahydrofolate dehydrogenase 1 deficiency (MTHFD1 deficiency) is a disease resulting from mutations of the MTHFD1 gene. Patients with this disease may have hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild intellectual disability, lymphocytopenia (involving all subsets) and low T-cell receptor excision circles.
History
The disease was first described by Watkins et al. in 2011.[1]
Alternative names
- Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH)
External links
- Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH) - a record in OMIM
References
- ↑ "Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband". Journal of Medical Genetics 48 (9): 590–2. September 2011. doi:10.1136/jmedgenet-2011-100286. PMID 21813566.
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