Menkes Disease, also known as Menkes syndrome or kinky hair disease, is a rare genetic disorder that affects copper metabolism in the body. It is named after the pediatrician John Hans Menkes, who first described the condition in 1962.
Menkes Disease is characterized by a deficiency in the absorption and distribution of copper, an essential mineral required for the proper functioning of various enzymes in the body. This leads to a wide range of symptoms and complications.
One of the most prominent features of Menkes Disease is abnormal hair growth and texture, often described as "kinky" or "steel wool" hair. Infants with the condition may also exhibit weak muscle tone (hypotonia), developmental delays, and feeding difficulties.
Neurological symptoms are common in Menkes Disease and may include seizures, intellectual disability, and delayed or absent milestones. Affected individuals may also experience poor body temperature regulation, leading to episodes of hypothermia or hyperthermia.
Other signs and symptoms of Menkes Disease can involve skeletal abnormalities, such as weak bones and joints, as well as connective tissue problems. Gastrointestinal issues, including diarrhea and constipation, are also observed in some cases.
Early diagnosis of Menkes Disease is crucial for initiating appropriate treatment. Genetic testing can confirm the presence of mutations in the ATP7A gene, which is responsible for copper transport in the body. Unfortunately, there is currently no cure for Menkes Disease, but certain interventions, such as copper injections, may help alleviate some symptoms and improve quality of life.
Menkes Disease is an inherited disorder that follows an X-linked recessive pattern, meaning it primarily affects males. However, females can also be carriers of the condition. Genetic counseling and prenatal testing are recommended for families with a history of Menkes Disease to assess the risk of passing it on to future generations.