Familial benign copper deficiency

Orpha code: 1551OMIM code: 121270

Definition

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.

Disease data
Classification

Disease

Synonyms
Familial benign hypocupremia
ORPHA code
1551
OMIM code
121270
ICD10 code
E83.0
ICD11 code
-

No additional description.

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