11/11/2024
What is Menke’s disease?
Menkes disease (MD) is a rare disease, affecting 1 in 300,000 people. It is also known as Menkes steely hair disease, or Kinky hair syndrome because of characteristic steely woolly hairs. MD is a lethal multisystemic disorder due to abnormal copper metabolism. MD is caused by mutations in the ATP7A gene on X chromosome. ATP7A gene code for a copper-transport protein involved in final processing of several copper-dependent enzymes. The defect results in a systemic copper
deficiency and dysfunction of copper-dependent enzymes involved in cellular functioning, collagen synthesis and neurotransmission. Classical MD is inherited as an X-linked recessive disorder and affect boys in early infancy.
Seizures, neurodegeneration, connective tissue disorder and Kinky hair are predominant manifestations of MD.
Symptoms in children with MD evolve with age:
o Cephalohematomas and spontaneous fractures at birth
o Prolonged jaundice, hypothermia, hypoglycaemia and feeding difficulties in
neonatal period.
o Unusual sparse and lustreless scalp hair that becomes tangled on the top of
the head at the age of 1–2 months
o Initial developmental milestone is normal up to about 2–4 months of age.
subsequently development becomes slow and stagnant.
o By 4-5 months most patients develop seizures, which are poorly controlled
with medications.
o Developmental regressions become obvious with seizure onset.
o Feeding difficulty leads to failure to thrive, poor swallowing leading to
vomiting, recurrent cough and aspiration pneumonia.
o Most affected patients are hypotonic in early life, later develop paucity of
spontaneous activity and develop spasticity.
o Boys affected with MD appears pale, lethargic, have frontal or occipital
bossing, micrognathia, pudgy cheeks, seborrheic dermatitis and a rather
expressionless appearance with woolly steely and kinky hairs.
o Cutis laxa, hernia, bony abnormalities are other features
o MRI brain shows brain atrophy and abnormally dilated and tortuous blood
vessels.
Diagnosis of MD require hair microscopy, EEG, MRI Brain, serum copper and ceruloplasmin levels and genetic testing for ATP7A gene
Outcome and survival: Severely affected children with MD die usually before the third
year of life.
Treatment: Supportive care, nutrition with feeding tube if needed, anti-seizure medications. Curative therapy for MD does not exist. Very early copper–histidine treatment initiation may improve some of the neurological symptoms. Copper histidine therapy is administered subcutaneously daily.
For more information related to copper histidine therapy availability in India, you may contact at PGIMER Drug information centre.
