This recently reported disorder is one of several in which the body is unable to properly metabolize copper. A number of properly functioning enzymes are necessary for the body to be able to use this essential element.
The clinical picture is not yet well-defined. The disorder results in severe developmental delay and early death. Improper development of a brain structure (cerebellum) can be seen on MRI. Infants are born with cataracts. Hearing loss also seems to be a feature although more individuals need to be studied before we know the full range of clinical features.
Blood levels of copper and the protein that carries it are low.
A mutation in a pair of genes is necessary before this disease develops. It is thus an autosomal recessive disorder carried in single dose by healthy parents who have a 25% risk of transmitting this condition to each of their children.
This a condition which is lethal in children based on the single report available. It requires a blood and gene test to diagnose.