Why is ceruloplasmin low in Menkes disease?

Menkes disease (MD), also known as kinky hair disease, is a multifocal, degenerative disease of gray matter first described in 1962 by Menkes et al. Some 10 years later, Danks et al. found that serum copper and ceruloplasmin levels were reduced and suggested that the primary defect in MD involved copper metabolism.

What does a high ceruloplasmin result mean?

Anything that interferes with the supply of copper or with the body’s ability to metabolize copper has the potential to affect blood ceruloplasmin and copper concentrations. Higher-than-normal ceruloplasmin levels could be a sign of a serious infection, heart disease, rheumatoid arthritis, leukemia or Hodgkin lymphoma.

What happens if ceruloplasmin is low?

Low levels of ceruloplasmin in your blood can cause changes in your body and energy levels. This can affect your day-to-day functions and cause problems with the way your body absorbs nutrients. It can also signal an inherited disorder called Wilson’s disease.

Which enzyme is deficient in Menkes disease?

Menkes disease is an X-linked genetic disorder caused by mutations in the ATP7A gene. This gene is responsible for production of the ATPase enzyme that regulates copper levels in the body.

Is Menkes disease dominant or recessive?

Menkes syndrome is inherited in an X-linked recessive pattern . The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes.

What is copper histidine used for?

We conclude that copper histidine therapy is beneficial in reversing the skin and hair changes, improving appendicular tone, socio-cognitive milestones, and improving weight gain, and immunity. Early diagnosis and management of MD are essential to have a better clinical outcome.

What is a normal ceruloplasmin level?

Normal Results The normal range for adults is 14 to 40 mg/dL (0.93 to 2.65 µmol/L). Normal value ranges may vary slightly among different laboratories. Some labs use different measurements or may test different samples. Talk to your provider about the meaning of your specific test results.

What does a ceruloplasmin blood test tell you?

A ceruloplasmin test is a blood test to check your ceruloplasmin levels. Ceruloplasmin is a protein your liver makes. It binds to copper and carries it throughout your body. If you have low ceruloplasmin, it can point to a genetic condition called Wilson disease, a copper deficiency or other medical conditions.

What causes Menkes syndrome?

Menkes disease is caused by a defect in the ATP7A gene. The defect makes it hard for the body to properly distribute (transport) copper throughout the body. As a result, the brain and other parts of the body do not get enough copper, while it builds up in the small intestine and kidneys.

What is the treatment for Menkes disease?

Once diagnosed, Menkes disease can be treated with copper supplements, delivered by daily subcutaneous injections. However, results can vary depending on the type of copper complex used and the severity of the ATP7A mutation.

What are the symptoms of Menkes disease?

Common symptoms of Menkes disease in infants are:

Brittle, kinky, steely, sparse, or tangled hair.
Pudgy, rosy cheeks, sagging facial skin.
Feeding difficulties.
Irritability.
Lack of muscle tone, floppiness.
Low body temperature.
Intellectual disability and developmental delay.
Seizures.

What does a low ceruloplasmin level mean?

If you have Wilson disease, your ceruloplasmin level will probably be below 10 mg/dL. Low ceruloplasmin might also mean Menkes disease. This is a genetic disorder that makes it hard for your body to absorb copper.

What do my ceruloplasmin test results mean?

Ask your healthcare provider what your test results mean for you. The normal range for a ceruloplasmin serum test is 20 to 35 milligrams per deciliter (mg/dL). If you have Wilson disease, your ceruloplasmin level will probably be below 10 mg/dL.

What causes high ceruloplasmin levels?

malabsorption syndrome, which means difficulty absorbing nutrients (especially protein) and other substances from the intestines Menkes disease, which is a hereditary metabolic disorder that affects the body’s copper levels Your ceruloplasmin levels may be higher than normal if you’re:

What is a normal copper and ceruloplasmin level?

Copper and ceruloplasmin levels may be normal in the milder variants and in the neonatal period. The total body copper content can be normal in the infant until 2 weeks after birth or later. Ceruloplasmin levels are 6-12 mg/dL initially and only later are considered pathologically low.