Last update 01 Nov 2024

Copper Deficiency, Familial Benign

Basic Info

Synonyms
COPPER DEFICIENCY, FAMILIAL BENIGN, Copper deficiency, familial benign, Familial benign copper deficiency
+ [4]
Introduction
A rare disorder of mineral absorption and transport characterised by hypocupraemia that manifests as failure to thrive, mild anaemia, repeated seizures, hypotonia and seborrhoeic 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 1982.

Analysis

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