Copper deficiency, familial benign

Other Names: Familial benign copper deficiency; Familial benign hypocupremia

Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1988.

NIH genetic and rare disease info

• NIH info on Copper deficiency, familial benign

Copper deficiency, familial benign is a rare disease.