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
Disease occurs in 1 in 100,000 to 250,000 live births
What are the symptoms?
Variations range from mild to severeDistinctive symptoms begin at 2-3 months of ageFailure to meet developmental milestones
Weak and “floppy” muscles
Failure to thrive
Kinky hair (short, sparse, coarse and twisted hair, usually white or gray in color)
Pudgy, rosy cheeks
Low body temperature
Pale, pigmented skin color
Sagging facial muscles
Frequent urinary tract infections (UTIs)
Weak and/or brittle bones
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? To date there is no cure for Menkes syndrome other than treating the symptoms with palliative care. Copper replacements can be initiated - subcutaneously (under the skin), or intramuscularly (in the muscle), or intravenously (in the vein) with mixed results. The earlier treatment is given in the course of the disease, the more positive the results.
How are symptoms treated?
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 levelsCopper level in placenta will be high and can be used to diagnose newbornsAbnormal level of catechol in blood and cerebrospinal fluid, even in a newborn
Skin biopsy will test copper metabolismMicroscopic examination of hair will show Menkes abnormalities.
In 70% of cases genetic testing of mother will show a mutation in the ATP7A geneUltrasound may show bladder diverticula or "out pouching" in most casesThickening of aortic valve will occur in severe cases
X-ray of skeleton/skull indicates wormian-twisted bones or metaphyseal widening