Understanding Menkes

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 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?

  • 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?

  • 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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Menkes Disease: Finding Help & Hope - by Daniel DeFabio