Diagnosis is the key factor in Menkes Disease (MD). Like the disorder Pheylketonuria (PKU), MD needs to be diagnosed swiftly to prevent further deterioration of neurons. Early treatment with subcutaneous injections of copper histidine is essential for the survival of infants born with MD, and treatment within 10 days can improve development and neurological outcome depending on the severity of the disease (Kaler, 2016). A child born with MD is phenotypically normal or presents with a few subtle birth defects. MD specific symptoms do not begin to develop until around 2 to 3 months of age (Menkes Foundation UK, 2014).
Although it seems like copper testing is the most suitable newborn screen, the normal infant copper level overlaps with that of an infant with MD (Kaler et al., 2008). In a study done by Kaler et al., dopamine-ß-hydroxylase dependent catecholemine level was a useful tool to test quickly for MD in the presymptomatic stage. Because dopamine-ß-hydroxylase is dependent upon copper, activity is diminished in a newborm with MD (2008).
Currently, genetic testing is used to confirm the suspicion for a MD diagnosis. Unfortunately, this occurs around 2 to 3 months once the infant shows symptoms. By this time, treatment is delayed and too much irreversible damage has been done to get good efficacy from the copper histidine.
Thanks to the rapid development if quick and cost-effective genetic sequencing, newborn screening for certain genetic disorders can be completed within days. MD advocacy groups are undergoing the process to include MD testing in the Recommended Universal Screening Panel (RUSP) created by the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). This panel "identifies a number of core conditions—those for which screening is highly recommended—and secondary conditions, for which screening is optional. As of November 2016, the RUSP included 34 core conditions and 26 secondary conditions" (National Institutes of Health, 2017). Certain criteria that the condition must meet include: identification can be made quickly after birth at which it would normally not be clinically detected, a sensitive and effective test is available, and early detection makes treatment efficacious (Advisory Committee on Heritable Disorders in Newborns and Children, 2015). Once MD makes the list, then each state will decide whether or not to include it in their list of newborn screening conditions to test for. Most states include all tests recommended by the ACHDNC.
This film was produced to reflect the importance of screening for Menkes Disease. This is a disease that affects 1 in 40,000 to 1 in 360,000 live births (Moller, Mogensen & Horn, 2009). The children and families affected by MD deserve early testing and treatment, especially because both are available.
Menkes Disease : Finding Help & Hope from Daniel DeFabio on Vimeo.
(Defabio, 2017)
Although it seems like copper testing is the most suitable newborn screen, the normal infant copper level overlaps with that of an infant with MD (Kaler et al., 2008). In a study done by Kaler et al., dopamine-ß-hydroxylase dependent catecholemine level was a useful tool to test quickly for MD in the presymptomatic stage. Because dopamine-ß-hydroxylase is dependent upon copper, activity is diminished in a newborm with MD (2008).
Currently, genetic testing is used to confirm the suspicion for a MD diagnosis. Unfortunately, this occurs around 2 to 3 months once the infant shows symptoms. By this time, treatment is delayed and too much irreversible damage has been done to get good efficacy from the copper histidine.
Thanks to the rapid development if quick and cost-effective genetic sequencing, newborn screening for certain genetic disorders can be completed within days. MD advocacy groups are undergoing the process to include MD testing in the Recommended Universal Screening Panel (RUSP) created by the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). This panel "identifies a number of core conditions—those for which screening is highly recommended—and secondary conditions, for which screening is optional. As of November 2016, the RUSP included 34 core conditions and 26 secondary conditions" (National Institutes of Health, 2017). Certain criteria that the condition must meet include: identification can be made quickly after birth at which it would normally not be clinically detected, a sensitive and effective test is available, and early detection makes treatment efficacious (Advisory Committee on Heritable Disorders in Newborns and Children, 2015). Once MD makes the list, then each state will decide whether or not to include it in their list of newborn screening conditions to test for. Most states include all tests recommended by the ACHDNC.
This film was produced to reflect the importance of screening for Menkes Disease. This is a disease that affects 1 in 40,000 to 1 in 360,000 live births (Moller, Mogensen & Horn, 2009). The children and families affected by MD deserve early testing and treatment, especially because both are available.
Menkes Disease : Finding Help & Hope from Daniel DeFabio on Vimeo.
(Defabio, 2017)
References
Advisory Committee on Heritable Disorders in Newborns and Children. (2015, May 7). Newborn screening: Toward a uniform screening panel and system. Retrieved from
Defabio, D. (2017, September). Menkes disease: Finding help and hope [Video File]. Retrieved from
https://vimeo.com/120211522
Kaler, S. (2016, August 18). ATP7A-related copper transport disorders. GeneReviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1413/
Kaler, S., Holmes, C.S., Goldstein, D.S., Tang, J., Godwin, S.C., Donsante, A... Patronas, N. (2008, February 7). Neonatal diagnosis and treatment of Menkes disease. The New England Journal of Medicine, 358(6), 605-614. Retrieved from http://dx.doi.org.sunypoly.idm.oclc.org/10.1056/NEJMoa070613
Moller, L.B., Mogensen, M., & Horn, N. (2009, October). Molecular diagnosis of Menkes disease: Genotype-phenotype correlation. Biochimie, 91(10), 1273-1277. Retrieved from https://doi.org/10.1016/j.biochi.2009.05.011
Menkes Foundation UK. (2014). What is Menkes? Retrieved from http://www.menkesfoundationuk.com/what_is_menkes.htm
National Institutes of Health. (2017, September 1). What disorders are newborns screened for in the United States. Retrieved from
https://www.nichd.nih.gov/health/topics/newborn/conditioninfo/disorders
https://vimeo.com/120211522
Kaler, S. (2016, August 18). ATP7A-related copper transport disorders. GeneReviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1413/
Kaler, S., Holmes, C.S., Goldstein, D.S., Tang, J., Godwin, S.C., Donsante, A... Patronas, N. (2008, February 7). Neonatal diagnosis and treatment of Menkes disease. The New England Journal of Medicine, 358(6), 605-614. Retrieved from http://dx.doi.org.sunypoly.idm.oclc.org/10.1056/NEJMoa070613
Moller, L.B., Mogensen, M., & Horn, N. (2009, October). Molecular diagnosis of Menkes disease: Genotype-phenotype correlation. Biochimie, 91(10), 1273-1277. Retrieved from https://doi.org/10.1016/j.biochi.2009.05.011
Menkes Foundation UK. (2014). What is Menkes? Retrieved from http://www.menkesfoundationuk.com/what_is_menkes.htm
National Institutes of Health. (2017, September 1). What disorders are newborns screened for in the United States. Retrieved from
https://www.nichd.nih.gov/health/topics/newborn/conditioninfo/disorders
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