Menkes Syndrome and its Effects on the Human Body
Menkes syndrome, also called Menkes Disease or MD, is a lethal genetic disorder that affects copper levels in the body which leads to a copper deficiency. Classical MD is the most intense form of this disease with occipital horn syndrome (OHS) being the mildest. Symptoms of Menkes syndrome can be mild or severe. Patients typically fail to meet developmental milestones and tend to have kinky brittle hair, are under weight and experience a deterioration of their nervous system. Other signs include weak muscle tone, sagging facial features, seizures, intellectual delays, low body temperature, pale skin color and weak or brittle bones. As the disease progresses spontaneous movement become noticeably …show more content…
“Copper is an important trace element that is required for essential enzymes.” (https://www.sciencedirect.com/science/article/pii/S0301008214000124) Copper is also critical for normal brain development. Serious brain defects can occur if deficient of copper. Along with iron, copper helps create red blood cells. It aids in maintaining blood vessels, nerves, immune function, and strong bones.
Menkes disorder is diagnosed when the baby turns 2-3 months old when the symptoms are visible. Up until this point, the babies appear healthy with normal babbling, smiling, and development. Upon the onset of symptoms, the baby stops developing further and may start showing signs of losing previously developed skills. This developmental abnormality becomes more obvious by 5-6 months old.
Testing includes blood analysis, skin biopsy, and microscopic examination of hair. The results of these tests will show low copper and ceruoplasmin levels. This disease is typically not noticeable at birth because newborns seems healthy and normal, however, tests to the mother’s placenta can show high copper levels due to the infant's inability to process this chemical element. Newborns will have abnormal levels of cerebrospinal fluid and catechol in blood. X-rays can be taken to identify thin and brittle bones caused by the disease. In 70% of the cases, testing the mother’s ATP7A gene for the mutation can also make the diagnoses. Performing an ultrasound on the bladder can show diverticula which is also an indication of the disorder. In severe cases, thickening of the aortic valve may occur.
Menkes syndrome, also called Menkes Disease or MD, is a lethal genetic disorder that affects copper levels in the body which leads to a copper deficiency. Classical MD is the most intense form of this disease with occipital horn syndrome (OHS) being the mildest. Symptoms of Menkes syndrome can be mild or severe. Patients typically fail to meet developmental milestones and tend to have kinky brittle hair, are under weight and experience a deterioration of their nervous system. Other signs include weak muscle tone, sagging facial features, seizures, intellectual delays, low body temperature, pale skin color and weak or brittle bones. As the disease progresses spontaneous movement become noticeably …show more content…
“Copper is an important trace element that is required for essential enzymes.” (https://www.sciencedirect.com/science/article/pii/S0301008214000124) Copper is also critical for normal brain development. Serious brain defects can occur if deficient of copper. Along with iron, copper helps create red blood cells. It aids in maintaining blood vessels, nerves, immune function, and strong bones.
Menkes disorder is diagnosed when the baby turns 2-3 months old when the symptoms are visible. Up until this point, the babies appear healthy with normal babbling, smiling, and development. Upon the onset of symptoms, the baby stops developing further and may start showing signs of losing previously developed skills. This developmental abnormality becomes more obvious by 5-6 months old.
Testing includes blood analysis, skin biopsy, and microscopic examination of hair. The results of these tests will show low copper and ceruoplasmin levels. This disease is typically not noticeable at birth because newborns seems healthy and normal, however, tests to the mother’s placenta can show high copper levels due to the infant's inability to process this chemical element. Newborns will have abnormal levels of cerebrospinal fluid and catechol in blood. X-rays can be taken to identify thin and brittle bones caused by the disease. In 70% of the cases, testing the mother’s ATP7A gene for the mutation can also make the diagnoses. Performing an ultrasound on the bladder can show diverticula which is also an indication of the disorder. In severe cases, thickening of the aortic valve may occur.