Definition:
Menkes disease is a disorder affecting the body's copper levels and characterized by sparse and coarse hair, growth and development problems, as well as deterioration of the nervous system. It is also alternatively known as Menkes kinky hair syndrome.
Diagnosis:
Menkes disease may be diagnosed based on laboratory tests showing low serum copper levels, as well as imaging studies that reveal various white matter dysmyelination, atrophy, tortuous blood vessels, subdural hematomas, and other associated anomalies.
Treatment:
Treatment for Menkes disease includes subcutaneous or intravenous injections of copper supplements to compensate for the deficiency. Other forms of treatment are mostly symptomatic and supportive.
Symptoms and Signs:
Symptoms of Menkes disease typically manifest during infancy, and may include: hypotonia (weak muscle tone); seizures; sagging facial features; mental retardation; growth and developmental delays; failure to thrive; subnormal body temperature; as well as a strikingly peculiar “kinky” hair that's often colorless and brittle. Most affected babies are prematurely born. Between the 2nd and 3rd months of life, affected infants may grow normally. However, severe development delays and loss of early developmental skills swill occur soon after.
Causes:
The symptoms of Menkes disease are attributed to abnormalities in intestinal copper absorption along with secondary deficiencies in copper-dependent mitochonrial enzymes. The disease is linked to mutations of the ATP7A gene, which is involved in distributing copper to cells in the body.
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