Cataracts, Hearing Loss, and Neurodegeneration

Background and History: 

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.

Clinical Correlations: 

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.

Diagnosis and Prognosis: 

This a condition which is lethal in children based on the single report available.  It requires a blood and gene test to diagnose.

Additional Information
Autosomal recessive