Menkes' Kinky Hair Syndrome (MKHS) is a sex-linked (X-linked) recessive disorder defined as a progressive, genetic, neurodegenerative disorder of copper metabolism.
MKHS results in copper deficiency that is caused by defects in the gene that encodes a copper-transporting APTase.
Other symptoms of MKHS include: rosy, pudgy cheeks; failure to thrive; lack of muscle tone, floppiness (hypotonia); irritability; seizures--usually tonic-clonic; brittle, kinky hair; feeding difficulties; intracranial hemorrhage due to twisted arteries with frayed and split inner walls; weakened bones and osteoporosis leading to fractures; and, hypothermia (University of Maryland Medical Center, 2005).
MKHS exhibits an incidence rate of approximately 1 in 250,000 live births and should be suspected around 2-3 months of age when infants exhibit: 1) loss of previously obtained developmental milestones; 2) hypotonia, seizures, and failure to thrive; and, 3) physical changes in hair and facies.
Distinctively abnormal plasma catecholamine concentrations is considered the most rapid and reliable marker for MKHS in the early neonatal period.
Treatment of MKHS centers around the administration of copper to: 1) bypass the problems associated with defective intestinal absorption; 2) deliver copper to the brain; and, 3) deliver copper to cells that need copper for enzyme activity.