Methylenetetrahydrofolate dehydrogenase 1 deficiency

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

1. Watkins D, Schwartzentruber JA, Ganesh J, Orange JS, Kaplan BS, Nunez LD, Majewski J, Rosenblatt DS (September 2011). "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. doi:10.1136/jmedgenet-2011-100286. PMID   21813566. S2CID   9623450.