Copper deficiency associated with severe neurological disorder--a genetic work-up of possible mutations in copper transport proteins.

BACKGROUND

Copper deficiency has been described as resulting in severe neurological impairment. However, mechanisms underlying a copper deficiency are presently unknown.

PATIENTS AND

METHODS

We describe three patients suffering from severe spasticity, ataxia and hyperreflexia and had laboratory evidence of copper deficiency.

RESULTS

Genetic analysis of six copper transporters/chaperones revealed no mutations, but two SNPs in one copper transporter protein and one copper chaperone.

CONCLUSIONS

Owing to the severity of the disease further research is required to elucidate the mechanisms leading to copper deficiency.