Menkes Syndrome

Menkes disease is an X-linked fatal recessive disorder characterized by neurological deterioration, failure to thrive, and death as a result of genetic mutations. In this condition copper accumulates in the intestine and kidneys and is low in the liver and brain. The genetic defect leads to both a reduced transport of copper from the intestine into the circulation and into the central nervous system, as well as a reduced transport of copper into copper-dependent enzymes. Copper (Cu) is an essential nutrient that is required for a broad range of cellular processes. Mammals have efficient systems to control Cu homeostasis that operate at the level of controlling uptake, distribution, sequestration and excretion of Cu. Systemic copper deficiency and reduced activity of various copper-dependent enzymes accounts for most of the characteristic features of Menkes disease patients. The disorder causes severe brain degeneration and arterial changes, resulting in death in infancy. The disease can often be diagnosed by looking at a victim's hair, which appears to be both whitish and kinked when viewed under a microscope.1



Canine copper toxicosis is an important inherited disease in Bedlington terriers resulting from an impaired copper excretion. It has a high prevalence rate and similarity to human copper storage disease and can lead to chronic liver disease and hemolytic anemia.

References

  1. Aldenhoven M, Klomp LW, van Hasselt PM, de Koning TJ, Visser G.Ned Tijdschr Geneeskd. From gene to disease; Menkes disease: copper deficiency due to an ATP7A-gene defect. 2007 Oct 13;151(41):2266-70




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