In Menkes babies copper is low in blood, and an often used marker is ceruloplasmin. This protein is a carrier of iron and copper. If copper is lacking the amount will be much lower than usual. However, there are pitfalls when using this marker. All newborn babies show low ceruloplasmin and copper the first month of life. If ceruloplasmin stays low after one to two month this clearly points to a Menkes diagnosis in a small boy.

But treatment should start as early as possible, and this delay is not acceptable, but it is a common way to diagnose Menkes in most countries. Few other markers are available. In 1993 Stephen Kaler introduced measurement of catecholamines that can be used from birth*. Unfortunately this is not widely available as a routine analysis. There is an urgent need for better diagnostics.