Familial benign copper deficiency
| Familial benign copper deficiency | |
|---|---|
| Other names | Familial benign hypocupremia, Copper deficiency familial benign.[1] |
| Specialty | Medical genetics |
| Symptoms | Skin and mild vascular abnormalities |
| Usual onset | Infancy |
| Duration | Lifelong (but symptoms improve when oral copper is supplemented |
| Causes | X-linked dominant or Autosomal dominant genetic mutation. |
| Diagnostic method | Blood testing, physical examination. |
| Prevention | none |
| Treatment | Oral supplements of copper. |
| Medication | Oral supplements of copper |
| Prognosis | Good |
| 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
[edit]- ^ Roberts, Sean. "Copper deficiency, familial benign". Archived from the original on 13 May 2022. Retrieved 18 July 2022.
- ^ "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.
- ^ 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) - ^ 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
- ^ "Entry – 121270 – COPPER DEFICIENCY, FAMILIAL BENIGN – OMIM". omim.org. Archived from the original on 27 April 2019. Retrieved 18 July 2022.
- ^ 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.
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