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Familial benign copper deficiency

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Familial benign copper deficiency
Other namesFamilial benign hypocupremia, Copper deficiency familial benign.[1]
SpecialtyMedical genetics
SymptomsSkin and mild vascular abnormalities
Usual onsetInfancy
DurationLifelong (but symptoms improve when oral copper is supplemented
CausesX-linked dominant or Autosomal dominant genetic mutation.
Diagnostic methodBlood testing, physical examination.
Preventionnone
TreatmentOral supplements of copper.
MedicationOral supplements of copper
PrognosisGood
Deaths

Familial benign copper deficiency, also known as Familial benign hypocupremia is a rare genetic disorder which is characterized by hypocupremia that causes symptoms such as epilepsy, hypotonia, seborrheic skin, thriving failure and mild anemia.[2] Radiological findings include tibia and femur spurring.[3] Transmission is thought to be either autosomal dominant or X-linked dominant.[4]

Symptoms are caused by a familial tendency of having low levels of copper within the body and can be improved (treated and managed) with oral supplements of copper.[5]

It has been described in members of a 3-generation Hungarian family.[6]

References

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  1. ^ Roberts, Sean. "Copper deficiency, familial benign". Archived from the original on 13 May 2022. Retrieved 18 July 2022.
  2. ^ "Copper deficiency, familial benign – About the Disease – Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Archived from the original on 27 July 2021. Retrieved 18 July 2022.
  3. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Familial benign copper deficiency". www.orpha.net. Archived from the original on 5 March 2021. Retrieved 18 July 2022.{{cite web}}: CS1 maint: numeric names: authors list (link)
  4. ^ Bissonnette, Bruno; Luginbuehl, Igor; Marciniak, Bruno; Dalens, Bernard J. (2006), "Familial Benign Copper Deficiency", Syndromes: Rapid Recognition and Perioperative Implications, New York, NY: The McGraw-Hill Companies, retrieved 18 July 2022
  5. ^ "Entry – 121270 – COPPER DEFICIENCY, FAMILIAL BENIGN – OMIM". omim.org. Archived from the original on 27 April 2019. Retrieved 18 July 2022.
  6. ^ Méhes, K; Petrovicz, E (7 September 1982). "Familial benign copper deficiency". Archives of Disease in Childhood. 57 (9): 716–718. doi:10.1136/adc.57.9.716. ISSN 0003-9888. PMC 1627787. PMID 7125694.