Methylenetetrahydrofolate dehydrogenase 1 deficiency (MTHFD1 deficiency) is a disease resulting from mutations of the
MTHFD1
MTHFD1 is a gene located in humans on chromosome 14 that encodes for a protein with three distinct enzymatic activities. C-1-tetrahydrofolate synthase, cytoplasmic also known as C1-THF synthase is an enzyme that in humans is encoded by the ''MTHFD ...
gene. Patients with this disease may have
hemolytic uremic syndrome,
macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation,
lymphocytopenia (involving all subsets) and low
T-cell receptor excision circles.
History
The disease was first described by Watkins et al. in 2011.
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
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Genetic diseases and disorders
Enzyme defects