megaloblastic anemia
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 <span class="disease" id="21310276-2-110-130">megaloblastic anemia</span> and/or pancytopenia, 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.