Our case was already diagnosed by a doctor but we believe it is important to know what symptoms a victim of Menkes has and how this disease can be diagnosed.
The following are common symptoms of Menkes patients:
- Pudgy, rosy cheeks
- Weak or lack of muscle tone
- Kinky, metallic or colorless hair
- Skeletal abnormalities, such as weak bones
- Seizures
- Mental deterioration
- Irritability
- Feeding difficulties
- Low body temperature
Since this disease is so rare, it is implausible that the doctor will be able to diagnose the disease only by adding up the symptoms. There is no exact test to determine if you have Menkes but individual tests can be used to complement the diagnosis.
The most common tests being:
- Serum Copper Level- Low levels of copper in blood may indicate this disease
- X-Rays- To verify if boner structures are built correctly
- Microscopic examination of structure, such as hair in the case of Rick
- Genetic Testing- To see if ATP7A is mutated
- Urine test – to detect abnormal levels of copper
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