Case Reports
A case study on menke’s disease, does it really exist
Author(s): V. Jayavaruani*
Copper is the trace element which cannot be synthesized by the human body. So it is absorbed from the ingested food. The normal value of copper is 32g±21mcg/dl, while ceruloplasmin (serum ferroxidase, which contains 95% of plasma copper) is 6 to 12 mg/dl. Copper helps in the formation of RBCs, and keeps the blood cells, nerves, bones, and immune system healthy. Copper helps in the absorption of iron. This absorption is enhanced by the gene called ATP7A. A defective gene ATP7A impairs the transport and absorption of copper. Menke’s disease is a rare X- linked recessive disorder which causes a deficiency of copper levels in the body. This case study elaborates on a child with Menke’s disease and its management.
Key Words: Ceruloplasmin; Copper; ATP7A gene.. Read More»
DOI:
10.37532/2632-251X.2022.6(1).37-38
+44 7915641605
