Menke's disease
Last reviewed 01/2018
Menke's disease is a rare, X-linked disorder characterised by:
- cerebral and cerebellar degeneration
- connective tissue abnormalities
- kinky hair - friable, and without colour
It results from impaired intestinal absorption of copper. Serum copper and ceruloplasmin, and liver copper are low.
Infants present with fitting in the first few months of life; they have a cherubic face and wiry hair as described above. There is no effective treatment and death occurs before three years of age.