pancytopenia
We describe three individuals from two families with a recessive inborn error of metabolism, characterized by megaloblastic anemia and/or pancytopenia, severe cerebral folate deficiency, and cerebral tetrahydrobiopterin deficiency due to a germline missense mutation in DHFR, resulting in profound enzyme deficiency.
We describe three individuals from two families with a recessive inborn error of metabolism, characterized by megaloblastic anemia and/or <span class="disease" id="21310276-2-138-150">pancytopenia</span>, severe cerebral folate deficiency, and cerebral tetrahydrobiopterin deficiency due to a germline missense mutation in <span class="gene" id="21310276-2-270-274">DHFR</span>, resulting in profound enzyme deficiency.