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Menkes disease
Menkes disease (MD) is an inherited condition that impacts the way the body processes copper levels in the body. MD primarily affects the nervous system and connective tissue with symptoms that tend to get worse over time.
Prevalence
unknown
N/A
US Estimated
N/A
Europe Estimated
Age of Onset
Infancy
ICD-10
E83.0
Inheritance Pattern
X-linked recessive
5 Facts you should know
FACT
Menkes Disease, also known as Menkes Syndrome, is a rare X-linked genetic disorder that affects copper metabolism in the body
FACT
It is caused by mutations in the ATP7A gene, leading to impaired absorption and transport of copper within cells
FACT
Menkes Disease primarily affects males, and symptoms typically manifest in infancy, including hypotonia, failure to thrive, seizures, and characteristic kinky or twisted hair
FACT
Copper deficiency results in reduced activity of copper-dependent enzymes, impacting various physiological processes
FACT
Early diagnosis through genetic testing is crucial, but the prognosis is often severe, and treatment may involve copper supplementation if initiated early
Interest over time
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Common signs & symptoms
Sparse, kinky, brittle hair
Failure to thrive
Severe developmental delay
Seizures
Hypotonia
Connective tissue abnormalities
Current treatments
Early copper replacement therapy
(e.g., copper histidinate injections) may improve outcomes if started soon after birth
Symptomatic care
seizure management, nutritional support, physical therapy