Before I met Lucas, I did not know what Menkes Disease (MD) was. Fortunately, Lucas's parents are very forthcoming, and do not mind educating the public about MD. It is a rare X-linked genetic disease that affects 1 in 100,000 live births (NIH, 2018). It is caused by a mutation of the ATP7A gene which produces a protein that regulates absorption of copper in the stomach, small intestine, and central nervous system (Kim et al., 2014). Copper is essential for many neurological enzymes and the fortitude of connective tissue. A child born with MD appears to be normal for 6 to 8 weeks. The first symptoms include hypotonia, seizures, poor appetite, and subsequently failure to thrive (Prasad et al., 2011). As with many other genetic diseases, the severity of the disease depends on the particular mutation of the gene, but in this blog, I will focus on the more severe forms.
Currently, there is no prenatal testing standard in place. Many children are diagnosed by genetic testing, but Menkes disease is suspected when the child presents with hypopigmented sparse kinky hair, a symptom of low copper. MD is sometimes called Kinky Hair Syndrome. If a child receives a swift diagnosis, they would be treated with intravenous copper. Depending on the child's mutation, copper may improve the prognosis (NIH, 2018). Unfortunately, in most cases, a child does not receive a diagnosis to start treatment before irreversible neurodegeneration has occurred.
MD causes severe intellectual and physical disability. Without medical intervention, a child born with MD will not live past 3. Many children receive a lot of medical care early on to improve their quality of life. Because of appetite problems and feeding disabilities, a child with MD will have a feeding tube placed within the time of diagnosis to deliver the nutrition to grow and thrive. A child with MD will be incontinent of stool and will have a risk of skin breakdown and infection due to incontinence and from sitting in a wheelchair. Because of the neurological aspects of MD, the child is unable to empty their bladder and will need routine catheterizations to void. The child will be wheelchair bound and will need full assistance with mobility. A child with MD is non-verbal, but may express emotions such as smiling and making sounds. Many times, a MD child's needs are a full time job and in-home nursing care is a necessity. The resources needed to give a MD child a good quality of life can be cumbersome, but with the right resources, families become accustomed to the needs of their MD child.
Credit: Alila Medical Media/Shutterstock.com
This photo shows that dietary copper is not absorbed through the intestines of an individual with MD. Therefore, the brain, skin, hair and bones do not get the copper that they need to develop. Copper builds up in the small intestine and the kidneys (Alila Medical Media/Shutterstock.com, n.d.).
Prasad, A. N., Levin, S., Rupar, A., & Prasad, C. (2011, August 3). Menkes disease and infantile epilepsy. Brain & Development, 33, 866-876. Retrieved from https://doi-org.sunypoly.idm.oclc.org/10.1016/j.braindev.2011.08.002
Currently, there is no prenatal testing standard in place. Many children are diagnosed by genetic testing, but Menkes disease is suspected when the child presents with hypopigmented sparse kinky hair, a symptom of low copper. MD is sometimes called Kinky Hair Syndrome. If a child receives a swift diagnosis, they would be treated with intravenous copper. Depending on the child's mutation, copper may improve the prognosis (NIH, 2018). Unfortunately, in most cases, a child does not receive a diagnosis to start treatment before irreversible neurodegeneration has occurred.
MD causes severe intellectual and physical disability. Without medical intervention, a child born with MD will not live past 3. Many children receive a lot of medical care early on to improve their quality of life. Because of appetite problems and feeding disabilities, a child with MD will have a feeding tube placed within the time of diagnosis to deliver the nutrition to grow and thrive. A child with MD will be incontinent of stool and will have a risk of skin breakdown and infection due to incontinence and from sitting in a wheelchair. Because of the neurological aspects of MD, the child is unable to empty their bladder and will need routine catheterizations to void. The child will be wheelchair bound and will need full assistance with mobility. A child with MD is non-verbal, but may express emotions such as smiling and making sounds. Many times, a MD child's needs are a full time job and in-home nursing care is a necessity. The resources needed to give a MD child a good quality of life can be cumbersome, but with the right resources, families become accustomed to the needs of their MD child.
This photo shows that dietary copper is not absorbed through the intestines of an individual with MD. Therefore, the brain, skin, hair and bones do not get the copper that they need to develop. Copper builds up in the small intestine and the kidneys (Alila Medical Media/Shutterstock.com, n.d.).
References
Alila
Medical Media/Shutterstock.com. (n.d.). Menkes disease [Illustration]. Retrieved from https://ghr.nlm.nih.gov/condition/menkes-syndrome#genes
Kim, J.
H., Lee, B.H., Kim, Y.M., Choi, J.H., Kim, G.H., Cheon, C.K., & Yoo, H.W.
(2014). Novel mutations and clinical outcomes of copper-histidine therapy in
Menkes disease patients. Metabolic
Brain Disease, 30, 75-81. Retrieved from
NIH.
National Library of Medicine. (2018, October 16). Menkes syndrome. Genetics Home Reference. Retrieved
from https://ghr.nlm.nih.gov/condition/menkes-syndrome#genes
Prasad, A. N., Levin, S., Rupar, A., & Prasad, C. (2011, August 3). Menkes disease and infantile epilepsy. Brain & Development, 33, 866-876. Retrieved from https://doi-org.sunypoly.idm.oclc.org/10.1016/j.braindev.2011.08.002
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