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Familial benign copper deficiency

MONDO:0007368

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 1982.

Also known as: copper deficiency, familial benign, familial benign hypocupremia

24 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inborn errors of metabolism (42) Human disease (14) Disease of genetic or genomic mechanism (2) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0) Disorder of copper metabolism (0) Disorder of metabolite absorption and transport (0)

Trials to join now! 13 Not yet recruiting 3 Not yet finished but already full! 3 Completed 5

Familial benign copper deficiency

Broader categories

New vitamin supplements aim to make life easier for kids with rare metabolic disorders

Massive genetic study aims to unlock secrets of rare metabolic diseases

Study on COVID-19 and metabolic disorders pulled before it began