Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease.

doi:10.1016/j.ajhg.2011.01.007

Article

Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease.

American journal of human genetics - 11 Feb 2011

Cario Holger, Smith Desirée E C, Blom Henk, Blau Nenad, Bode Harald, Holzmann Karlheinz, Pannicke Ulrich, Hopfner Karl-Peter, Rump Eva-Maria, Ayric Zuleya, Kohne Elisabeth, Debatin Klaus-Michael, Smulders Yvo, Schwarz Klaus

Abstract excerpt

The importance of intracellular folate metabolism is illustrated by the severity of symptoms and complications caused by inborn disorders of folate metabolism or by folate deficiency. We examined three children of healthy, distantly related parents presenting with megaloblastic anemia and cerebral folate deficiency causing neurologic disease with atypical childhood absence epilepsy. Genome-wide homozygosity...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease.

Abstract excerpt

Topics

Related research