Research Overview

Menkes disease is a fatal illness in which the intestines are unable to absorb copper, depriving the brain and other tissues of this essential mineral. This disease is also known as Menkes Kinky Hair disease and Menkes syndrome.

Who gets it?

• Male infants are primarily affected
• In rare cases female infants can also be affected
• Females are carriers of the mutated gene
• 30% of cases are spontaneous genetic mutations; 70% genetically inherited
• All ethnic groups have been affected
• Menkes disease is believed to be 1 in 34,810 live male births, and potentially as high as 1 in 8,664 live male births 

What are the symptoms?

• Variations range from mild to severe
• Distinctive symptoms begin at 2-3 months of age
• Failure to meet developmental milestones
• Weak and “floppy” muscles
• Seizures
• Failure to thrive
• Kinky hair (short, sparse, coarse, twisted hair, usually lighter in color)
• Pudgy, rosy cheeks
• Irritability
• Feeding difficulties
• Low body temperature
• Pale, pigmented skin color
• Sagging facial muscles
• Frequent urinary tract infections (UTIs)
• Weak and/or brittle bones
• Respiratory difficulties

What is the prognosis? 

• The prognosis for individuals with Menkes is poor; death can occur within the first decade of life.

Can Menkes be treated?

• Treatment with daily copper complexes (such as copper-histidine) may improve the outcome in Menkes disease if it begins within days after birth.   This treatment may prevent or slow nervous system damage, decrease the number of seizures, and increase lifespan. Copper treatment does not work for all patients with Menkes disease. Other treatments are aimed at preventing and/or managing the symptoms and complications associated with this condition.

How are symptoms treated?

• Anti-seizure medications
• Pain medication
• Feeding tube when necessary
• Physical and occupational therapy to maximize potential

How is Menkes disease diagnosed?

• At birth, affected infants appear healthy and normal, including their hair.
• When the baby turns 2-3 months old, symptoms become more obvious.
• Blood tests will reveal low copper and ceruoplasmin levels
• Copper level in placenta is higher for newborns with Menkes and this can be used to diagnose newborns
• Abnormal level of catechol in blood and cerebrospinal fluid, even newborns
• Skin biopsy will test copper metabolism
• Microscopic examination of hair will show Menkes abnormalities.
• In 70% of cases genetic testing of mother will show a mutation in the ATP7A gene
• Ultrasound may show bladder diverticula or "out pouching" in most cases
• Thickening of aortic valve will occur in severe cases
• X-ray of skeleton/skull indicates wormian-twisted bones or metaphyseal widening

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