Menkes disease is caused by a genetic mutation affecting copper metabolism. Specifically, mutations in the ATP7A gene are responsible for this condition.
The Role of the ATP7A Gene
The ATP7A gene plays a crucial role in regulating copper levels within the body. According to research, mutations in this gene disrupt the normal metabolism of copper, leading to abnormal copper distribution.
- Copper accumulates at abnormally low levels in the:
- Liver
- Brain
- Copper accumulates at higher-than-normal levels in the:
- Kidney
- Intestinal lining
This improper distribution of copper disrupts various copper-dependent enzymes, leading to the characteristic symptoms of Menkes disease. Menkes disease primarily affects male infants.
